Canonical Allele Identifier: CA375683226

Gene: ABO

Linked Data

• MyVariant Identifiers: chr9:g.136131073G>C (hg19) ; chr9:g.133255686G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133255686G>C , CM000671.2:g.133255686G>C	GRCh38
NC_000009.11:g.136131073G>C , CM000671.1:g.136131073G>C	GRCh37
NC_000009.10:g.135120894G>C	NCBI36
NG_006669.1:g.21982C>G
NG_006669.2:g.24530C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453660.4:n.1074C>G
ENST00000647353.1:n.54-4534C>G
ENST00000679909.1:c.28+19476C>G	ENSP00000506089.1:n.28+19476C>G
ENST00000453660.3:n.1056C>G
ENST00000538324.2:c.1042C>G	ENSP00000483018.1:p.Gln348Glu
ENST00000611156.4:c.1042C>G	ENSP00000483265.1:p.Gln348Glu
NM_020469.2:c.1045C>G	NP_065202.2:p.Gln349Glu
NM_020469.3:c.1045C>G	NP_065202.2:p.Gln349Glu