Canonical Allele Identifier: CA375683252

Gene: ABO

Linked Data

• gnomAD v4: 9-133255689-G-T
• MyVariant Identifiers: chr9:g.136131076G>T (hg19) ; chr9:g.133255689G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133255689G>T , CM000671.2:g.133255689G>T	GRCh38
NC_000009.11:g.136131076G>T , CM000671.1:g.136131076G>T	GRCh37
NC_000009.10:g.135120897G>T	NCBI36
NG_006669.1:g.21979C>A
NG_006669.2:g.24527C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453660.4:n.1071C>A
ENST00000647353.1:n.54-4537C>A
ENST00000679909.1:c.28+19473C>A	ENSP00000506089.1:n.28+19473C>A
ENST00000453660.3:n.1053C>A
ENST00000538324.2:c.1039C>A	ENSP00000483018.1:p.His347Asn
ENST00000611156.4:c.1039C>A	ENSP00000483265.1:p.His347Asn
NM_020469.2:c.1042C>A	NP_065202.2:p.His348Asn
NM_020469.3:c.1042C>A	NP_065202.2:p.His348Asn