Canonical Allele Identifier: CA5305895

Gene: ABO

Linked Data

• dbSNP Id: rs781892836
• ExAC: 9:136132821 C / T
• gnomAD v2: 9-136132821-C-T
• gnomAD v4: 9-133257434-C-T
• MyVariant Identifiers: chr9:g.136132821C>T (hg19) ; chr9:g.133257434C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133257434C>T , CM000671.2:g.133257434C>T	GRCh38
NC_000009.11:g.136132821C>T , CM000671.1:g.136132821C>T	GRCh37
NC_000009.10:g.135122642C>T	NCBI36
NG_006669.1:g.20234G>A
NG_006669.2:g.22782G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000453660.4:n.378G>A
ENST00000647353.1:n.54-6282G>A
ENST00000651471.1:n.329+608G>A
ENST00000679909.1:c.28+17728G>A	ENSP00000506089.1:n.28+17728G>A
ENST00000453660.3:n.360G>A
ENST00000538324.2:c.346G>A	ENSP00000483018.1:p.Gly116Arg
ENST00000611156.4:c.346G>A	ENSP00000483265.1:p.Gly116Arg
NM_020469.2:c.349G>A	NP_065202.2:p.Gly117Arg
NM_020469.3:c.349G>A	NP_065202.2:p.Gly117Arg