Canonical Allele Identifier: CA200764797

Gene: ABO

Linked Data

• dbSNP Id: rs112981202
• gnomAD v2: 9-136130694-C-G
• gnomAD v3: 9-133255307-C-G
• gnomAD v4: 9-133255307-C-G
• MyVariant Identifiers: chr9:g.136130694C>G (hg19) ; chr9:g.133255307C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133255307C>G , CM000671.2:g.133255307C>G	GRCh38
NC_000009.11:g.136130694C>G , CM000671.1:g.136130694C>G	GRCh37
NC_000009.10:g.135120515C>G	NCBI36
NG_006669.1:g.22361G>C
NG_006669.2:g.24909G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453660.4:n.1453G>C
ENST00000647353.1:n.54-4155G>C
ENST00000679909.1:c.28+19855G>C	ENSP00000506089.1:n.28+19855G>C
ENST00000453660.3:n.1435G>C
ENST00000611156.4:c.*359G>C	ENSP00000483265.1:n.*359G>C
NM_020469.2:c.*359G>C	NP_065202.2:n.*359G>C
NM_020469.3:c.*359G>C	NP_065202.2:n.*359G>C