Canonical Allele Identifier: CA200766239

Gene: ABO

Linked Data

• dbSNP Id: rs535565392
• gnomAD v3: 9-133257668-A-C
• gnomAD v4: 9-133257668-A-C
• MyVariant Identifiers: chr9:g.136133055A>C (hg19) ; chr9:g.133257668A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133257668A>C , CM000671.2:g.133257668A>C	GRCh38
NC_000009.11:g.136133055A>C , CM000671.1:g.136133055A>C	GRCh37
NC_000009.10:g.135122876A>C	NCBI36
NG_006669.1:g.19999T>G
NG_006669.2:g.22547T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453660.4:n.270-126T>G
ENST00000647353.1:n.54-6516T>G
ENST00000651471.1:n.329+374T>G
ENST00000679909.1:c.28+17494T>G	ENSP00000506089.1:n.28+17494T>G
ENST00000453660.3:n.252-126T>G
ENST00000538324.2:c.240-126T>G	ENSP00000483018.1:n.240-126T>G
ENST00000611156.4:c.240-126T>G	ENSP00000483265.1:n.240-126T>G
NM_020469.2:c.240-126T>G	NP_065202.2:n.240-126T>G
NM_020469.3:c.240-126T>G	NP_065202.2:n.240-126T>G