Canonical Allele Identifier: CA375685435

Gene: ABO

Linked Data

• gnomAD v4: 9-133256019-C-A
• MyVariant Identifiers: chr9:g.136131406C>A (hg19) ; chr9:g.133256019C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133256019C>A , CM000671.2:g.133256019C>A	GRCh38
NC_000009.11:g.136131406C>A , CM000671.1:g.136131406C>A	GRCh37
NC_000009.10:g.135121227C>A	NCBI36
NG_006669.1:g.21649G>T
NG_006669.2:g.24197G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453660.4:n.741G>T
ENST00000647353.1:n.54-4867G>T
ENST00000679909.1:c.28+19143G>T	ENSP00000506089.1:n.28+19143G>T
ENST00000453660.3:n.723G>T
ENST00000538324.2:c.709G>T	ENSP00000483018.1:p.Gly237Ter
ENST00000611156.4:c.709G>T	ENSP00000483265.1:p.Gly237Ter
NM_020469.2:c.712G>T	NP_065202.2:p.Gly238Ter
NM_020469.3:c.712G>T	NP_065202.2:p.Gly238Ter