Canonical Allele Identifier: CA375684566

Gene: ABO

Linked Data

• dbSNP Id: rs1834565822
• gnomAD v3: 9-133255857-G-A
• gnomAD v4: 9-133255857-G-A
• MyVariant Identifiers: chr9:g.136131244G>A (hg19) ; chr9:g.133255857G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133255857G>A , CM000671.2:g.133255857G>A	GRCh38
NC_000009.11:g.136131244G>A , CM000671.1:g.136131244G>A	GRCh37
NC_000009.10:g.135121065G>A	NCBI36
NG_006669.1:g.21811C>T
NG_006669.2:g.24359C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453660.4:n.903C>T
ENST00000647353.1:n.54-4705C>T
ENST00000679909.1:c.28+19305C>T	ENSP00000506089.1:n.28+19305C>T
ENST00000453660.3:n.885C>T
ENST00000538324.2:c.871C>T	ENSP00000483018.1:p.Gln291Ter
ENST00000611156.4:c.871C>T	ENSP00000483265.1:p.Gln291Ter
NM_020469.2:c.874C>T	NP_065202.2:p.Gln292Ter
NM_020469.3:c.874C>T	NP_065202.2:p.Gln292Ter