Canonical Allele Identifier: CA375683568
Gene: ABO HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133255730G>T , CM000671.2:g.133255730G>T GRCh38
NC_000009.11:g.136131117G>T , CM000671.1:g.136131117G>T GRCh37
NC_000009.10:g.135120938G>T NCBI36
NG_006669.1:g.21938C>A
NG_006669.2:g.24486C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000453660.4:n.1030C>A
ENST00000647353.1:n.54-4578C>A
ENST00000679909.1:c.28+19432C>A ENSP00000506089.1:n.28+19432C>A
ENST00000453660.3:n.1012C>A
ENST00000538324.2:c.998C>A ENSP00000483018.1:p.Ala333Asp
ENST00000611156.4:c.998C>A ENSP00000483265.1:p.Ala333Asp
NM_020469.2:c.1001C>A NP_065202.2:p.Ala334Asp
NM_020469.3:c.1001C>A NP_065202.2:p.Ala334Asp