Canonical Allele Identifier: CA375686138
Gene: ABO HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000453660.4:n.580T>A
ENST00000647353.1:n.54-5028T>A
ENST00000651471.1:n.506T>A
ENST00000679909.1:c.28+18982T>A ENSP00000506089.1:n.28+18982T>A
ENST00000453660.3:n.562T>A
ENST00000538324.2:c.548T>A ENSP00000483018.1:p.Val183Glu
ENST00000611156.4:c.548T>A ENSP00000483265.1:p.Val183Glu
NM_020469.2:c.551T>A NP_065202.2:p.Val184Glu
NM_020469.3:c.551T>A NP_065202.2:p.Val184Glu