Canonical Allele Identifier: CA375686691

Gene: ABO

Linked Data

• gnomAD v4: 9-133257487-G-T
• MyVariant Identifiers: chr9:g.136132874G>T (hg19) ; chr9:g.133257487G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133257487G>T , CM000671.2:g.133257487G>T	GRCh38
NC_000009.11:g.136132874G>T , CM000671.1:g.136132874G>T	GRCh37
NC_000009.10:g.135122695G>T	NCBI36
NG_006669.1:g.20181C>A
NG_006669.2:g.22729C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000453660.4:n.325C>A
ENST00000647353.1:n.54-6335C>A
ENST00000651471.1:n.329+555C>A
ENST00000679909.1:c.28+17675C>A	ENSP00000506089.1:n.28+17675C>A
ENST00000453660.3:n.307C>A
ENST00000538324.2:c.293C>A	ENSP00000483018.1:p.Thr98Lys
ENST00000611156.4:c.293C>A	ENSP00000483265.1:p.Thr98Lys
NM_020469.2:c.296C>A	NP_065202.2:p.Thr99Lys
NM_020469.3:c.296C>A	NP_065202.2:p.Thr99Lys