Canonical Allele Identifier: CA375683065

Gene: ABO

Linked Data

• dbSNP Id: rs1182922321
• gnomAD v2: 9-136131054-C-T
• gnomAD v4: 9-133255667-C-T
• MyVariant Identifiers: chr9:g.136131054C>T (hg19) ; chr9:g.133255667C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133255667C>T , CM000671.2:g.133255667C>T	GRCh38
NC_000009.11:g.136131054C>T , CM000671.1:g.136131054C>T	GRCh37
NC_000009.10:g.135120875C>T	NCBI36
NG_006669.1:g.22001G>A
NG_006669.2:g.24549G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453660.4:n.1093G>A
ENST00000647353.1:n.54-4515G>A
ENST00000679909.1:c.28+19495G>A	ENSP00000506089.1:n.28+19495G>A
ENST00000453660.3:n.1075G>A
ENST00000538324.2:c.1057G>A	ENSP00000483018.1:p.Glu353Lys
ENST00000611156.4:c.1061G>A	ENSP00000483265.1:p.Ter354=
NM_020469.2:c.1064G>A	NP_065202.2:p.Ter355=
NM_020469.3:c.1064G>A	NP_065202.2:p.Ter355=