Canonical Allele Identifier: CA375686142

Gene: ABO

Linked Data

• MyVariant Identifiers: chr9:g.136131569G>C (hg19) ; chr9:g.133256182G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133256182G>C , CM000671.2:g.133256182G>C	GRCh38
NC_000009.11:g.136131569G>C , CM000671.1:g.136131569G>C	GRCh37
NC_000009.10:g.135121390G>C	NCBI36
NG_006669.1:g.21486C>G
NG_006669.2:g.24034C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000453660.4:n.578C>G
ENST00000647353.1:n.54-5030C>G
ENST00000651471.1:n.504C>G
ENST00000679909.1:c.28+18980C>G	ENSP00000506089.1:n.28+18980C>G
ENST00000453660.3:n.560C>G
ENST00000538324.2:c.546C>G	ENSP00000483018.1:p.Asp182Glu
ENST00000611156.4:c.546C>G	ENSP00000483265.1:p.Asp182Glu
NM_020469.2:c.549C>G	NP_065202.2:p.Asp183Glu
NM_020469.3:c.549C>G	NP_065202.2:p.Asp183Glu