Canonical Allele Identifier: CA375686137
Gene: ABO HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133256180A>C , CM000671.2:g.133256180A>C GRCh38
NC_000009.11:g.136131567A>C , CM000671.1:g.136131567A>C GRCh37
NC_000009.10:g.135121388A>C NCBI36
NG_006669.1:g.21488T>G
NG_006669.2:g.24036T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000453660.4:n.580T>G
ENST00000647353.1:n.54-5028T>G
ENST00000651471.1:n.506T>G
ENST00000679909.1:c.28+18982T>G ENSP00000506089.1:n.28+18982T>G
ENST00000453660.3:n.562T>G
ENST00000538324.2:c.548T>G ENSP00000483018.1:p.Val183Gly
ENST00000611156.4:c.548T>G ENSP00000483265.1:p.Val183Gly
NM_020469.2:c.551T>G NP_065202.2:p.Val184Gly
NM_020469.3:c.551T>G NP_065202.2:p.Val184Gly