Canonical Allele Identifier: CA375685629

Gene: ABO

Linked Data

• COSMIC: COSM5573330
• MyVariant Identifiers: chr9:g.136131441G>A (hg19) ; chr9:g.133256054G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133256054G>A , CM000671.2:g.133256054G>A	GRCh38
NC_000009.11:g.136131441G>A , CM000671.1:g.136131441G>A	GRCh37
NC_000009.10:g.135121262G>A	NCBI36
NG_006669.1:g.21614C>T
NG_006669.2:g.24162C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453660.4:n.706C>T
ENST00000647353.1:n.54-4902C>T
ENST00000679909.1:c.28+19108C>T	ENSP00000506089.1:n.28+19108C>T
ENST00000453660.3:n.688C>T
ENST00000538324.2:c.674C>T	ENSP00000483018.1:p.Thr225Ile
ENST00000611156.4:c.674C>T	ENSP00000483265.1:p.Thr225Ile
NM_020469.2:c.677C>T	NP_065202.2:p.Thr226Ile
NM_020469.3:c.677C>T	NP_065202.2:p.Thr226Ile