Canonical Allele Identifier: CA467852715

Gene: ABO

Linked Data

• gnomAD v4: 9-133255933-C-A
• MyVariant Identifiers: chr9:g.136131320C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133255933C>A , CM000671.2:g.133255933C>A	GRCh38
NC_000009.11:g.136131320C>A , CM000671.1:g.136131320C>A	GRCh37
NC_000009.10:g.135121141C>A	NCBI36
NG_006669.1:g.21735G>T
NG_006669.2:g.24283G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453660.4:n.827G>T
ENST00000647353.1:n.54-4781G>T
ENST00000679909.1:c.28+19229G>T	ENSP00000506089.1:n.28+19229G>T
ENST00000453660.3:n.809G>T
ENST00000538324.2:c.795G>T	ENSP00000483018.1:p.Leu265=
ENST00000611156.4:c.795G>T	ENSP00000483265.1:p.Leu265=
NM_020469.2:c.798G>T	NP_065202.2:p.Leu266=
NM_020469.3:c.798G>T	NP_065202.2:p.Leu266=