Canonical Allele Identifier: CA5305894
Gene: ABO HGNC NCBI
MyVariant.info:
GRCh38 chr9:g.133257433C>G
GRCh37 chr9:g.136132820C>G
gnomAD v2:
9:136132820 C / G
gnomAD v3:
9:133257433 C / G
gnomAD v4:
chr9-133257433-C-G
Joint Max Group AF 0.00003069 (NFE)
Genomes Max Group AF 0.00001972 (NFE)
Exomes Max Group AF 0.00002914 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133257433C>G , CM000671.2:g.133257433C>G GRCh38
NC_000009.11:g.136132820C>G , CM000671.1:g.136132820C>G GRCh37
NC_000009.10:g.135122641C>G NCBI36
NG_006669.1:g.20235G>C
NG_006669.2:g.22783G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000453660.4:n.379G>C
ENST00000647353.1:n.54-6281G>C
ENST00000651471.1:n.329+609G>C
ENST00000679909.1:c.28+17729G>C ENSP00000506089.1:n.28+17729G>C
ENST00000453660.3:n.361G>C
ENST00000538324.2:c.347G>C ENSP00000483018.1:p.Gly116Ala
ENST00000611156.4:c.347G>C ENSP00000483265.1:p.Gly116Ala
NM_020469.2:c.350G>C NP_065202.2:p.Gly117Ala
NM_020469.3:c.350G>C NP_065202.2:p.Gly117Ala
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