Canonical Allele Identifier: CA375684742
Gene: ABO HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133255877T>A , CM000671.2:g.133255877T>A GRCh38
NC_000009.11:g.136131264T>A , CM000671.1:g.136131264T>A GRCh37
NC_000009.10:g.135121085T>A NCBI36
NG_006669.1:g.21791A>T
NG_006669.2:g.24339A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000453660.4:n.883A>T
ENST00000647353.1:n.54-4725A>T
ENST00000679909.1:c.28+19285A>T ENSP00000506089.1:n.28+19285A>T
ENST00000453660.3:n.865A>T
ENST00000538324.2:c.851A>T ENSP00000483018.1:p.His284Leu
ENST00000611156.4:c.851A>T ENSP00000483265.1:p.His284Leu
NM_020469.2:c.854A>T NP_065202.2:p.His285Leu
NM_020469.3:c.854A>T NP_065202.2:p.His285Leu