Canonical Allele Identifier: CA5305901

Gene: ABO

Linked Data

• dbSNP Id: rs1018900638
• ExAC: 9:136132851 C / T
• gnomAD v2: 9-136132851-C-T
• gnomAD v3: 9-133257464-C-T
• gnomAD v4: 9-133257464-C-T
• MyVariant Identifiers: chr9:g.136132851C>T (hg19) ; chr9:g.136132851_136132852delinsTG (hg19) ; chr9:g.133257464C>T (hg38) ; chr9:g.133257464_133257465delinsTG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133257464C>T , CM000671.2:g.133257464C>T	GRCh38
NC_000009.11:g.136132851C>T , CM000671.1:g.136132851C>T	GRCh37
NC_000009.10:g.135122672C>T	NCBI36
NG_006669.1:g.20204G>A
NG_006669.2:g.22752G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453660.4:n.348G>A
ENST00000647353.1:n.54-6312G>A
ENST00000651471.1:n.329+578G>A
ENST00000679909.1:c.28+17698G>A	ENSP00000506089.1:n.28+17698G>A
ENST00000453660.3:n.330G>A
ENST00000538324.2:c.316G>A	ENSP00000483018.1:p.Glu106Lys
ENST00000611156.4:c.316G>A	ENSP00000483265.1:p.Glu106Lys
NM_020469.2:c.319G>A	NP_065202.2:p.Glu107Lys
NM_020469.3:c.319G>A	NP_065202.2:p.Glu107Lys