Canonical Allele Identifier: CA375686334

Gene: ABO

Linked Data

• gnomAD v4: 9-133256280-C-T
• MyVariant Identifiers: chr9:g.136131667C>T (hg19) ; chr9:g.133256280C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133256280C>T , CM000671.2:g.133256280C>T	GRCh38
NC_000009.11:g.136131667C>T , CM000671.1:g.136131667C>T	GRCh37
NC_000009.10:g.135121488C>T	NCBI36
NG_006669.1:g.21388G>A
NG_006669.2:g.23936G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000453660.4:n.480G>A
ENST00000647353.1:n.54-5128G>A
ENST00000651471.1:n.406G>A
ENST00000679909.1:c.28+18882G>A	ENSP00000506089.1:n.28+18882G>A
ENST00000453660.3:n.462G>A
ENST00000538324.2:c.448G>A	ENSP00000483018.1:p.Val150Ile
ENST00000611156.4:c.448G>A	ENSP00000483265.1:p.Val150Ile
NM_020469.2:c.451G>A	NP_065202.2:p.Val151Ile
NM_020469.3:c.451G>A	NP_065202.2:p.Val151Ile