Canonical Allele Identifier: CA5305636

Gene: ABO

Linked Data

• dbSNP Id: rs781874663
• ExAC: 9:136131017 G / A
• gnomAD v2: 9-136131017-G-A
• gnomAD v4: 9-133255630-G-A
• MyVariant Identifiers: chr9:g.136131017G>A (hg19) ; chr9:g.133255630G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133255630G>A , CM000671.2:g.133255630G>A	GRCh38
NC_000009.11:g.136131017G>A , CM000671.1:g.136131017G>A	GRCh37
NC_000009.10:g.135120838G>A	NCBI36
NG_006669.1:g.22038C>T
NG_006669.2:g.24586C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453660.4:n.1130C>T
ENST00000647353.1:n.54-4478C>T
ENST00000679909.1:c.28+19532C>T	ENSP00000506089.1:n.28+19532C>T
ENST00000453660.3:n.1112C>T
ENST00000538324.2:c.1094C>T	ENSP00000483018.1:p.Ala365Val
ENST00000611156.4:c.*36C>T	ENSP00000483265.1:n.*36C>T
NM_020469.2:c.*36C>T	NP_065202.2:n.*36C>T
NM_020469.3:c.*36C>T	NP_065202.2:n.*36C>T