Canonical Allele Identifier: CA200764815

Gene: ABO

Linked Data

• dbSNP Id: rs62636488
• gnomAD v2: 9-136130708-C-T
• gnomAD v3: 9-133255321-C-T
• gnomAD v4: 9-133255321-C-T
• MyVariant Identifiers: chr9:g.136130708C>T (hg19) ; chr9:g.133255321C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133255321C>T , CM000671.2:g.133255321C>T	GRCh38
NC_000009.11:g.136130708C>T , CM000671.1:g.136130708C>T	GRCh37
NC_000009.10:g.135120529C>T	NCBI36
NG_006669.1:g.22347G>A
NG_006669.2:g.24895G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453660.4:n.1439G>A
ENST00000647353.1:n.54-4169G>A
ENST00000679909.1:c.28+19841G>A	ENSP00000506089.1:n.28+19841G>A
ENST00000453660.3:n.1421G>A
ENST00000611156.4:c.*345G>A	ENSP00000483265.1:n.*345G>A
NM_020469.2:c.*345G>A	NP_065202.2:n.*345G>A
NM_020469.3:c.*345G>A	NP_065202.2:n.*345G>A