Canonical Allele Identifier: CA375684468
Gene: ABO HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133255844A>T , CM000671.2:g.133255844A>T GRCh38
NC_000009.11:g.136131231A>T , CM000671.1:g.136131231A>T GRCh37
NC_000009.10:g.135121052A>T NCBI36
NG_006669.1:g.21824T>A
NG_006669.2:g.24372T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000453660.4:n.916T>A
ENST00000647353.1:n.54-4692T>A
ENST00000679909.1:c.28+19318T>A ENSP00000506089.1:n.28+19318T>A
ENST00000453660.3:n.898T>A
ENST00000538324.2:c.884T>A ENSP00000483018.1:p.Ile295Asn
ENST00000611156.4:c.884T>A ENSP00000483265.1:p.Ile295Asn
NM_020469.2:c.887T>A NP_065202.2:p.Ile296Asn
NM_020469.3:c.887T>A NP_065202.2:p.Ile296Asn