Canonical Allele Identifier: CA200769211
Gene: ABO HGNC NCBI
MyVariant.info:
GRCh38 chr9:g.133266942A>G
gnomAD v3:
9:133266942 A / G
gnomAD v4:
chr9-133266942-A-G
Joint Max Group AF 0.68681658 (AMR)
Genomes Max Group AF 0.68681658 (AMR)
dbSNP:
643434
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133266942A>G , CM000671.2:g.133266942A>G GRCh38
NG_006669.2:g.13273T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000453660.4:n.59-4774T>C
ENST00000647353.1:n.53+8220T>C
ENST00000651471.1:n.64-4774T>C
ENST00000679909.1:c.28+8220T>C ENSP00000506089.1:n.28+8220T>C
ENST00000453660.3:n.41-4774T>C
ENST00000538324.2:c.29-4774T>C ENSP00000483018.1:n.29-4774T>C
ENST00000611156.4:c.29-4774T>C ENSP00000483265.1:n.29-4774T>C
NM_020469.2:c.29-4774T>C NP_065202.2:n.29-4774T>C
NM_020469.3:c.29-4774T>C NP_065202.2:n.29-4774T>C
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