Canonical Allele Identifier: CA467852972
Gene: ABO HGNC NCBI

Linked Data

MyVariant Identifiers: chr9:g.136131443C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133256056C>A , CM000671.2:g.133256056C>A GRCh38
NC_000009.11:g.136131443C>A , CM000671.1:g.136131443C>A GRCh37
NC_000009.10:g.135121264C>A NCBI36
NG_006669.1:g.21612G>T
NG_006669.2:g.24160G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000453660.4:n.704G>T
ENST00000647353.1:n.54-4904G>T
ENST00000679909.1:c.28+19106G>T ENSP00000506089.1:n.28+19106G>T
ENST00000453660.3:n.686G>T
ENST00000538324.2:c.672G>T ENSP00000483018.1:p.Leu224=
ENST00000611156.4:c.672G>T ENSP00000483265.1:p.Leu224=
NM_020469.2:c.675G>T NP_065202.2:p.Leu225=
NM_020469.3:c.675G>T NP_065202.2:p.Leu225=