Canonical Allele Identifier: CA375684679
Gene: ABO HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133255866T>A , CM000671.2:g.133255866T>A GRCh38
NC_000009.11:g.136131253T>A , CM000671.1:g.136131253T>A GRCh37
NC_000009.10:g.135121074T>A NCBI36
NG_006669.1:g.21802A>T
NG_006669.2:g.24350A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000453660.4:n.894A>T
ENST00000647353.1:n.54-4714A>T
ENST00000679909.1:c.28+19296A>T ENSP00000506089.1:n.28+19296A>T
ENST00000453660.3:n.876A>T
ENST00000538324.2:c.862A>T ENSP00000483018.1:p.Met288Leu
ENST00000611156.4:c.862A>T ENSP00000483265.1:p.Met288Leu
NM_020469.2:c.865A>T NP_065202.2:p.Met289Leu
NM_020469.3:c.865A>T NP_065202.2:p.Met289Leu