Canonical Allele Identifier: CA375682214

Gene: ABO

Linked Data

• dbSNP Id: rs1286755031
• gnomAD v4: 9-133255621-G-T
• MyVariant Identifiers: chr9:g.136131008G>T (hg19) ; chr9:g.133255621G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133255621G>T , CM000671.2:g.133255621G>T	GRCh38
NC_000009.11:g.136131008G>T , CM000671.1:g.136131008G>T	GRCh37
NC_000009.10:g.135120829G>T	NCBI36
NG_006669.1:g.22047C>A
NG_006669.2:g.24595C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000453660.4:n.1139C>A
ENST00000647353.1:n.54-4469C>A
ENST00000679909.1:c.28+19541C>A	ENSP00000506089.1:n.28+19541C>A
ENST00000453660.3:n.1121C>A
ENST00000538324.2:c.1103C>A	ENSP00000483018.1:p.Pro368His
ENST00000611156.4:c.*45C>A	ENSP00000483265.1:n.*45C>A
NM_020469.2:c.*45C>A	NP_065202.2:n.*45C>A
NM_020469.3:c.*45C>A	NP_065202.2:n.*45C>A