Canonical Allele Identifier: CA5305712

Gene: ABO

Linked Data

• dbSNP Id: rs781985131
• ExAC: 9:136131283 G / A
• gnomAD v2: 9-136131283-G-A
• gnomAD v3: 9-133255896-G-A
• gnomAD v4: 9-133255896-G-A
• MyVariant Identifiers: chr9:g.136131283G>A (hg19) ; chr9:g.133255896G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133255896G>A , CM000671.2:g.133255896G>A	GRCh38
NC_000009.11:g.136131283G>A , CM000671.1:g.136131283G>A	GRCh37
NC_000009.10:g.135121104G>A	NCBI36
NG_006669.1:g.21772C>T
NG_006669.2:g.24320C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453660.4:n.864C>T
ENST00000647353.1:n.54-4744C>T
ENST00000679909.1:c.28+19266C>T	ENSP00000506089.1:n.28+19266C>T
ENST00000453660.3:n.846C>T
ENST00000538324.2:c.832C>T	ENSP00000483018.1:p.Arg278Trp
ENST00000611156.4:c.832C>T	ENSP00000483265.1:p.Arg278Trp
NM_020469.2:c.835C>T	NP_065202.2:p.Arg279Trp
NM_020469.3:c.835C>T	NP_065202.2:p.Arg279Trp