Canonical Allele Identifier: CA375685389

Gene: ABO

Linked Data

• gnomAD v4: 9-133256012-C-A
• COSMIC: COSM5824879
• MyVariant Identifiers: chr9:g.136131399C>A (hg19) ; chr9:g.133256012C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133256012C>A , CM000671.2:g.133256012C>A	GRCh38
NC_000009.11:g.136131399C>A , CM000671.1:g.136131399C>A	GRCh37
NC_000009.10:g.135121220C>A	NCBI36
NG_006669.1:g.21656G>T
NG_006669.2:g.24204G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453660.4:n.748G>T
ENST00000647353.1:n.54-4860G>T
ENST00000679909.1:c.28+19150G>T	ENSP00000506089.1:n.28+19150G>T
ENST00000453660.3:n.730G>T
ENST00000538324.2:c.716G>T	ENSP00000483018.1:p.Ser239Ile
ENST00000611156.4:c.716G>T	ENSP00000483265.1:p.Ser239Ile
NM_020469.2:c.719G>T	NP_065202.2:p.Ser240Ile
NM_020469.3:c.719G>T	NP_065202.2:p.Ser240Ile