Canonical Allele Identifier: CA375685673

Gene: ABO

Linked Data

• gnomAD v4: 9-133256063-T-C
• MyVariant Identifiers: chr9:g.136131450T>C (hg19) ; chr9:g.133256063T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133256063T>C , CM000671.2:g.133256063T>C	GRCh38
NC_000009.11:g.136131450T>C , CM000671.1:g.136131450T>C	GRCh37
NC_000009.10:g.135121271T>C	NCBI36
NG_006669.1:g.21605A>G
NG_006669.2:g.24153A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453660.4:n.697A>G
ENST00000647353.1:n.54-4911A>G
ENST00000679909.1:c.28+19099A>G	ENSP00000506089.1:n.28+19099A>G
ENST00000453660.3:n.679A>G
ENST00000538324.2:c.665A>G	ENSP00000483018.1:p.Glu222Gly
ENST00000611156.4:c.665A>G	ENSP00000483265.1:p.Glu222Gly
NM_020469.2:c.668A>G	NP_065202.2:p.Glu223Gly
NM_020469.3:c.668A>G	NP_065202.2:p.Glu223Gly