Canonical Allele Identifier: CA13339063
Gene: AKR1C3 HGNC NCBI
AKR1C2 HGNC NCBI
AKR1C1 HGNC NCBI
MyVariant.info:
GRCh38 chr10:g.5098945A>G
GRCh37 chr10:g.5141137A>G
gnomAD v2:
10:5141137 A / G
gnomAD v3:
10:5098945 A / G
gnomAD v4:
chr10-5098945-A-G
Joint Max Group AF 0.69978318 (EAS)
Genomes Max Group AF 0.63841464 (EAS)
Exomes Max Group AF 0.70605651 (EAS)
dbSNP:
10508293
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.5098945A>G , CM000672.2:g.5098945A>G GRCh38
NC_000010.10:g.5141137A>G , CM000672.1:g.5141137A>G GRCh37
NC_000010.9:g.5131137A>G NCBI36
NG_047094.1:g.55180A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000380554.5:c.447+66A>G (AKR1C3) MANE Select ENSP00000369927.3:n.447+66A>G
ENST00000380554.4:c.447+66A>G (AKR1C3) ENSP00000369927.3:n.447+66A>G
ENST00000407674.5:c.180+33729T>C (AKR1C2) ENSP00000385221.2:n.180+33729T>C
ENST00000434459.6:c.933-8516A>G (AKR1C1) ENSP00000412248.3:n.933-8516A>G
ENST00000439082.7:c.447+66A>G ENSP00000401327.3:n.447+66A>G
ENST00000602997.5:c.378+66A>G (AKR1C3) ENSP00000474188.1:n.378+66A>G
ENST00000605149.5:c.378+66A>G (AKR1C3) ENSP00000474882.1:n.378+66A>G
ENST00000605322.1:n.280-382A>G (AKR1C3)
ENST00000605781.5:n.626+66A>G (AKR1C3)
NM_001253908.1:c.447+66A>G (AKR1C3) NP_001240837.1:n.447+66A>G
NM_003739.5:c.447+66A>G (AKR1C3) NP_003730.4:n.447+66A>G
NM_003739.6:c.447+66A>G (AKR1C3) MANE Select NP_003730.4:n.447+66A>G
NM_001253908.2:c.447+66A>G (AKR1C3) NP_001240837.1:n.447+66A>G
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