Canonical Allele Identifier: CA467782997

Gene: ABO

Linked Data

• dbSNP Id: rs1445512040
• gnomAD v2: 9-136131713-C-T
• gnomAD v4: 9-133256326-C-T
• MyVariant Identifiers: chr9:g.136131713C>T (hg19) ; chr9:g.133256326C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133256326C>T , CM000671.2:g.133256326C>T	GRCh38
NC_000009.11:g.136131713C>T , CM000671.1:g.136131713C>T	GRCh37
NC_000009.10:g.135121534C>T	NCBI36
NG_006669.1:g.21342G>A
NG_006669.2:g.23890G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453660.4:n.434G>A
ENST00000647353.1:n.54-5174G>A
ENST00000651471.1:n.360G>A
ENST00000679909.1:c.28+18836G>A	ENSP00000506089.1:n.28+18836G>A
ENST00000453660.3:n.416G>A
ENST00000538324.2:c.402G>A	ENSP00000483018.1:p.Glu134=
ENST00000611156.4:c.402G>A	ENSP00000483265.1:p.Glu134=
NM_020469.2:c.405G>A	NP_065202.2:p.Glu135=
NM_020469.3:c.405G>A	NP_065202.2:p.Glu135=