Canonical Allele Identifier: CA375685811
Gene: ABO HGNC NCBI

Linked Data

dbSNP Id: rs964984014

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133256091T>A , CM000671.2:g.133256091T>A GRCh38
NC_000009.11:g.136131478T>A , CM000671.1:g.136131478T>A GRCh37
NC_000009.10:g.135121299T>A NCBI36
NG_006669.1:g.21577A>T
NG_006669.2:g.24125A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000453660.4:n.669A>T
ENST00000647353.1:n.54-4939A>T
ENST00000679909.1:c.28+19071A>T ENSP00000506089.1:n.28+19071A>T
ENST00000453660.3:n.651A>T
ENST00000538324.2:c.637A>T ENSP00000483018.1:p.Met213Leu
ENST00000611156.4:c.637A>T ENSP00000483265.1:p.Met213Leu
NM_020469.2:c.640A>T NP_065202.2:p.Met214Leu
NM_020469.3:c.640A>T NP_065202.2:p.Met214Leu