Canonical Allele Identifier: CA467779968

Gene: ABO

Linked Data

• dbSNP Id: rs62641787
• gnomAD v3: 9-133255299-C-A
• gnomAD v4: 9-133255299-C-A
• MyVariant Identifiers: chr9:g.136130686C>A (hg19) ; chr9:g.133255299C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133255299C>A , CM000671.2:g.133255299C>A	GRCh38
NC_000009.11:g.136130686C>A , CM000671.1:g.136130686C>A	GRCh37
NC_000009.10:g.135120507C>A	NCBI36
NG_006669.1:g.22369G>T
NG_006669.2:g.24917G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453660.4:n.1461G>T
ENST00000647353.1:n.54-4147G>T
ENST00000679909.1:c.28+19863G>T	ENSP00000506089.1:n.28+19863G>T
ENST00000453660.3:n.1443G>T
ENST00000611156.4:c.*367G>T	ENSP00000483265.1:n.*367G>T
NM_020469.2:c.*367G>T	NP_065202.2:n.*367G>T
NM_020469.3:c.*367G>T	NP_065202.2:n.*367G>T