Canonical Allele Identifier: CA375684657
Gene: ABO HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133255864C>A , CM000671.2:g.133255864C>A GRCh38
NC_000009.11:g.136131251C>A , CM000671.1:g.136131251C>A GRCh37
NC_000009.10:g.135121072C>A NCBI36
NG_006669.1:g.21804G>T
NG_006669.2:g.24352G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000453660.4:n.896G>T
ENST00000647353.1:n.54-4712G>T
ENST00000679909.1:c.28+19298G>T ENSP00000506089.1:n.28+19298G>T
ENST00000453660.3:n.878G>T
ENST00000538324.2:c.864G>T ENSP00000483018.1:p.Met288Ile
ENST00000611156.4:c.864G>T ENSP00000483265.1:p.Met288Ile
NM_020469.2:c.867G>T NP_065202.2:p.Met289Ile
NM_020469.3:c.867G>T NP_065202.2:p.Met289Ile