Canonical Allele Identifier: CA375686562

Gene: ABO

Linked Data

• MyVariant Identifiers: chr9:g.136132814G>A (hg19) ; chr9:g.133257427G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133257427G>A , CM000671.2:g.133257427G>A	GRCh38
NC_000009.11:g.136132814G>A , CM000671.1:g.136132814G>A	GRCh37
NC_000009.10:g.135122635G>A	NCBI36
NG_006669.1:g.20241C>T
NG_006669.2:g.22789C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000453660.4:n.385C>T
ENST00000647353.1:n.54-6275C>T
ENST00000651471.1:n.329+615C>T
ENST00000679909.1:c.28+17735C>T	ENSP00000506089.1:n.28+17735C>T
ENST00000453660.3:n.367C>T
ENST00000538324.2:c.353C>T	ENSP00000483018.1:p.Thr118Ile
ENST00000611156.4:c.353C>T	ENSP00000483265.1:p.Thr118Ile
NM_020469.2:c.356C>T	NP_065202.2:p.Thr119Ile
NM_020469.3:c.356C>T	NP_065202.2:p.Thr119Ile