Canonical Allele Identifier: CA375686586

Gene: ABO

Linked Data

• gnomAD v4: 9-133257439-G-T
• MyVariant Identifiers: chr9:g.136132826G>T (hg19) ; chr9:g.133257439G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133257439G>T , CM000671.2:g.133257439G>T	GRCh38
NC_000009.11:g.136132826G>T , CM000671.1:g.136132826G>T	GRCh37
NC_000009.10:g.135122647G>T	NCBI36
NG_006669.1:g.20229C>A
NG_006669.2:g.22777C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000453660.4:n.373C>A
ENST00000647353.1:n.54-6287C>A
ENST00000651471.1:n.329+603C>A
ENST00000679909.1:c.28+17723C>A	ENSP00000506089.1:n.28+17723C>A
ENST00000453660.3:n.355C>A
ENST00000538324.2:c.341C>A	ENSP00000483018.1:p.Thr114Asn
ENST00000611156.4:c.341C>A	ENSP00000483265.1:p.Thr114Asn
NM_020469.2:c.344C>A	NP_065202.2:p.Thr115Asn
NM_020469.3:c.344C>A	NP_065202.2:p.Thr115Asn