Canonical Allele Identifier: CA200765418

Gene: ABO

Linked Data

• dbSNP Id: rs914723195
• gnomAD v2: 9-136131464-G-A
• gnomAD v4: 9-133256077-G-A
• MyVariant Identifiers: chr9:g.136131464G>A (hg19) ; chr9:g.133256077G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133256077G>A , CM000671.2:g.133256077G>A	GRCh38
NC_000009.11:g.136131464G>A , CM000671.1:g.136131464G>A	GRCh37
NC_000009.10:g.135121285G>A	NCBI36
NG_006669.1:g.21591C>T
NG_006669.2:g.24139C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000453660.4:n.683C>T
ENST00000647353.1:n.54-4925C>T
ENST00000679909.1:c.28+19085C>T	ENSP00000506089.1:n.28+19085C>T
ENST00000453660.3:n.665C>T
ENST00000538324.2:c.651C>T	ENSP00000483018.1:p.Asp217=
ENST00000611156.4:c.651C>T	ENSP00000483265.1:p.Asp217=
NM_020469.2:c.654C>T	NP_065202.2:p.Asp218=
NM_020469.3:c.654C>T	NP_065202.2:p.Asp218=