Canonical Allele Identifier: CA200771134
Gene: ABO HGNC NCBI
MyVariant.info:
GRCh38 chr9:g.133274414A>G
gnomAD v3:
9:133274414 A / G
gnomAD v4:
chr9-133274414-A-G
Joint Max Group AF 0.88596653 (AFR)
Genomes Max Group AF 0.88596653 (AFR)
ClinVar RCV:
RCV001527069
ClinVar Variation:
1172912
dbSNP:
532436
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133274414A>G , CM000671.2:g.133274414A>G GRCh38
NG_006669.2:g.5801T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000453660.4:n.58+748T>C
ENST00000647353.1:n.53+748T>C
ENST00000651471.1:n.63+1548T>C
ENST00000679909.1:c.28+748T>C ENSP00000506089.1:n.28+748T>C
ENST00000453660.3:n.40+748T>C
ENST00000538324.2:c.28+748T>C ENSP00000483018.1:n.28+748T>C
ENST00000611156.4:c.28+748T>C ENSP00000483265.1:n.28+748T>C
NM_020469.2:c.28+748T>C NP_065202.2:n.28+748T>C
NM_020469.3:c.28+748T>C NP_065202.2:n.28+748T>C
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