Canonical Allele Identifier: CA467852969
Gene: ABO HGNC NCBI

Linked Data

MyVariant Identifiers: chr9:g.136131202G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133255815G>A , CM000671.2:g.133255815G>A GRCh38
NC_000009.11:g.136131202G>A , CM000671.1:g.136131202G>A GRCh37
NC_000009.10:g.135121023G>A NCBI36
NG_006669.1:g.21853C>T
NG_006669.2:g.24401C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000453660.4:n.945C>T
ENST00000647353.1:n.54-4663C>T
ENST00000679909.1:c.28+19347C>T ENSP00000506089.1:n.28+19347C>T
ENST00000453660.3:n.927C>T
ENST00000538324.2:c.913C>T ENSP00000483018.1:p.Leu305=
ENST00000611156.4:c.913C>T ENSP00000483265.1:p.Leu305=
NM_020469.2:c.916C>T NP_065202.2:p.Leu306=
NM_020469.3:c.916C>T NP_065202.2:p.Leu306=