Canonical Allele Identifier: CA375685654
Gene: ABO HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133256060A>T , CM000671.2:g.133256060A>T GRCh38
NC_000009.11:g.136131447A>T , CM000671.1:g.136131447A>T GRCh37
NC_000009.10:g.135121268A>T NCBI36
NG_006669.1:g.21608T>A
NG_006669.2:g.24156T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000453660.4:n.700T>A
ENST00000647353.1:n.54-4908T>A
ENST00000679909.1:c.28+19102T>A ENSP00000506089.1:n.28+19102T>A
ENST00000453660.3:n.682T>A
ENST00000538324.2:c.668T>A ENSP00000483018.1:p.Ile223Asn
ENST00000611156.4:c.668T>A ENSP00000483265.1:p.Ile223Asn
NM_020469.2:c.671T>A NP_065202.2:p.Ile224Asn
NM_020469.3:c.671T>A NP_065202.2:p.Ile224Asn