Canonical Allele Identifier: CA375686249

Gene: ABO

Linked Data

• gnomAD v4: 9-133256237-C-A
• MyVariant Identifiers: chr9:g.136131624C>A (hg19) ; chr9:g.133256237C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133256237C>A , CM000671.2:g.133256237C>A	GRCh38
NC_000009.11:g.136131624C>A , CM000671.1:g.136131624C>A	GRCh37
NC_000009.10:g.135121445C>A	NCBI36
NG_006669.1:g.21431G>T
NG_006669.2:g.23979G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453660.4:n.523G>T
ENST00000647353.1:n.54-5085G>T
ENST00000651471.1:n.449G>T
ENST00000679909.1:c.28+18925G>T	ENSP00000506089.1:n.28+18925G>T
ENST00000453660.3:n.505G>T
ENST00000538324.2:c.491G>T	ENSP00000483018.1:p.Gly164Val
ENST00000611156.4:c.491G>T	ENSP00000483265.1:p.Gly164Val
NM_020469.2:c.494G>T	NP_065202.2:p.Gly165Val
NM_020469.3:c.494G>T	NP_065202.2:p.Gly165Val