Canonical Allele Identifier: CA375684500
Gene: ABO HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133255849G>T , CM000671.2:g.133255849G>T GRCh38
NC_000009.11:g.136131236G>T , CM000671.1:g.136131236G>T GRCh37
NC_000009.10:g.135121057G>T NCBI36
NG_006669.1:g.21819C>A
NG_006669.2:g.24367C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000453660.4:n.911C>A
ENST00000647353.1:n.54-4697C>A
ENST00000679909.1:c.28+19313C>A ENSP00000506089.1:n.28+19313C>A
ENST00000453660.3:n.893C>A
ENST00000538324.2:c.879C>A ENSP00000483018.1:p.Asn293Lys
ENST00000611156.4:c.879C>A ENSP00000483265.1:p.Asn293Lys
NM_020469.2:c.882C>A NP_065202.2:p.Asn294Lys
NM_020469.3:c.882C>A NP_065202.2:p.Asn294Lys