Canonical Allele Identifier: CA5305661

Gene: ABO

Linked Data

• dbSNP Id: rs782561051
• ExAC: 9:136131115 C / T
• gnomAD v2: 9-136131115-C-T
• gnomAD v3: 9-133255728-C-T
• gnomAD v4: 9-133255728-C-T
• COSMIC: COSM5573350
• MyVariant Identifiers: chr9:g.136131115C>T (hg19) ; chr9:g.133255728C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133255728C>T , CM000671.2:g.133255728C>T	GRCh38
NC_000009.11:g.136131115C>T , CM000671.1:g.136131115C>T	GRCh37
NC_000009.10:g.135120936C>T	NCBI36
NG_006669.1:g.21940G>A
NG_006669.2:g.24488G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453660.4:n.1032G>A
ENST00000647353.1:n.54-4576G>A
ENST00000679909.1:c.28+19434G>A	ENSP00000506089.1:n.28+19434G>A
ENST00000453660.3:n.1014G>A
ENST00000538324.2:c.1000G>A	ENSP00000483018.1:p.Val334Ile
ENST00000611156.4:c.1000G>A	ENSP00000483265.1:p.Val334Ile
NM_020469.2:c.1003G>A	NP_065202.2:p.Val335Ile
NM_020469.3:c.1003G>A	NP_065202.2:p.Val335Ile