Canonical Allele Identifier: CA375684194

Gene: ABO

Linked Data

• gnomAD v4: 9-133255816-G-T
• MyVariant Identifiers: chr9:g.136131203G>T (hg19) ; chr9:g.133255816G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133255816G>T , CM000671.2:g.133255816G>T	GRCh38
NC_000009.11:g.136131203G>T , CM000671.1:g.136131203G>T	GRCh37
NC_000009.10:g.135121024G>T	NCBI36
NG_006669.1:g.21852C>A
NG_006669.2:g.24400C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000453660.4:n.944C>A
ENST00000647353.1:n.54-4664C>A
ENST00000679909.1:c.28+19346C>A	ENSP00000506089.1:n.28+19346C>A
ENST00000453660.3:n.926C>A
ENST00000538324.2:c.912C>A	ENSP00000483018.1:p.His304Gln
ENST00000611156.4:c.912C>A	ENSP00000483265.1:p.His304Gln
NM_020469.2:c.915C>A	NP_065202.2:p.His305Gln
NM_020469.3:c.915C>A	NP_065202.2:p.His305Gln