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IKMB: Blood Group DB

Scianna > ERMAP

Genetic changes
Quick Filter:
nt change aa change Location hg19 hg38 rsNum
c.103G>A p.Gly35Ser Exon 4 chr1:43296456 chr1:42830785 rs146429994
c.139G>A p.Glu47Lys Exon 4 chr1:43296492 chr1:42830821 rs56047316
c.169G>A p.Gly57Arg Exon 4 chr1:43296522 chr1:42830851 rs56025238
c.178C>G p.Pro60Ala Exon 4 chr1:43296531 chr1:42830860 rs56136737
c.217C>T p.Arg73Cys Exon 4 chr1:43296570 chr1:42830899
c.219C>T p.Arg73Cys Exon 4 chr1:43296572 chr1:42830901
c.242G>A p.Arg81Gln Exon 4 chr1:43296595 chr1:42830924 rs368064875
c.307_308delGA p.Asp103Cysfs*12 Exon 4 chr1:43296660 chr1:42830989 rs387906265
c.424C>G p.Gln142Glu Exon 4 chr1:43296777 chr1:42831106
c.994C>T p.Arg332Ter Exon 12 chr1:43308469 chr1:42842798 rs1056261813

erythroblast membrane associated protein
Chromosome:chr1
Strand:+
Genomic ref.:NG_008749.1
Transcript ref.:NM_001017922.2
Protein ref.: NP_001017922.1 NP_061008.2 XP_006710376.1 XP_011538872.1
Entrez GeneID:114625
Uniprot ID:Q96PL5
Further links:GTEx Portal, gnomAD
hg19:
ExonsStartEndCDS StartCDS End
12 43291248 43310660 43296119 43308903
hg38:
ExonsStartEndCDS StartCDS End
12 42817121 42844991 42830448 42843232
Exon hg19 start hg19 end hg38 start hg38 end
1 43282792 43282924 42817121 42817253
10 43305822 43305849 42840151 42840178
11 43305940 43305967 42840269 42840296
12 43308187 43310662 42842516 42844991
2 43291293 43291409 42825622 42825738
3 43296114 43296204 42830443 42830533
4 43296438 43296786 42830767 42831115
5 43300708 43300825 42835037 42835154
6 43301402 43301435 42835731 42835764
7 43302828 43302861 42837157 42837190
8 43304571 43304592 42838900 42838921
9 43305703 43305724 42840032 42840053