Canonical Allele Identifier: CA467786948

Gene: ABO

Linked Data

• dbSNP Id: rs587750217
• gnomAD v3: 9-133274072-A-C
• gnomAD v4: 9-133274072-A-C
• MyVariant Identifiers: chr9:g.136149488A>C (hg19) ; chr9:g.133274072A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133274072A>C , CM000671.2:g.133274072A>C	GRCh38
NC_000009.11:g.136149488A>C , CM000671.1:g.136149488A>C	GRCh37
NC_000009.10:g.135139309A>C	NCBI36
NG_006669.1:g.3563T>G
NG_006669.2:g.6143T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453660.4:n.58+1090T>G
ENST00000647353.1:n.53+1090T>G
ENST00000651471.1:n.63+1890T>G
ENST00000679909.1:c.28+1090T>G	ENSP00000506089.1:n.28+1090T>G
ENST00000453660.3:n.40+1090T>G
ENST00000538324.2:c.28+1090T>G	ENSP00000483018.1:n.28+1090T>G
ENST00000611156.4:c.28+1090T>G	ENSP00000483265.1:n.28+1090T>G
NM_020469.2:c.28+1090T>G	NP_065202.2:n.28+1090T>G
NM_020469.3:c.28+1090T>G	NP_065202.2:n.28+1090T>G