Canonical Allele Identifier: CA375685550

Gene: ABO

Linked Data

• gnomAD v4: 9-133256039-G-T
• MyVariant Identifiers: chr9:g.136131426G>T (hg19) ; chr9:g.133256039G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133256039G>T , CM000671.2:g.133256039G>T	GRCh38
NC_000009.11:g.136131426G>T , CM000671.1:g.136131426G>T	GRCh37
NC_000009.10:g.135121247G>T	NCBI36
NG_006669.1:g.21629C>A
NG_006669.2:g.24177C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453660.4:n.721C>A
ENST00000647353.1:n.54-4887C>A
ENST00000679909.1:c.28+19123C>A	ENSP00000506089.1:n.28+19123C>A
ENST00000453660.3:n.703C>A
ENST00000538324.2:c.689C>A	ENSP00000483018.1:p.Thr230Asn
ENST00000611156.4:c.689C>A	ENSP00000483265.1:p.Thr230Asn
NM_020469.2:c.692C>A	NP_065202.2:p.Thr231Asn
NM_020469.3:c.692C>A	NP_065202.2:p.Thr231Asn