Canonical Allele Identifier: CA375686782
Gene: ABO HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133257531A>T , CM000671.2:g.133257531A>T GRCh38
NC_000009.11:g.136132918A>T , CM000671.1:g.136132918A>T GRCh37
NC_000009.10:g.135122739A>T NCBI36
NG_006669.1:g.20136T>A
NG_006669.2:g.22684T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000453660.4:n.281T>A
ENST00000647353.1:n.54-6379T>A
ENST00000651471.1:n.329+511T>A
ENST00000679909.1:c.28+17631T>A ENSP00000506089.1:n.28+17631T>A
ENST00000453660.3:n.263T>A
ENST00000538324.2:c.251T>A ENSP00000483018.1:p.Val84Asp
ENST00000611156.4:c.251T>A ENSP00000483265.1:p.Val84Asp
NM_020469.2:c.251T>A NP_065202.2:p.Val84Asp
NM_020469.3:c.251T>A NP_065202.2:p.Val84Asp