Canonical Allele Identifier: CA591408193

Linked Data

dbSNP Id: rs1345242760
gnomAD v2: 10-5141080-T-C
gnomAD v3: 10-5098888-T-C
gnomAD v4: 10-5098888-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.5098888T>C , CM000672.2:g.5098888T>C GRCh38
NC_000010.10:g.5141080T>C , CM000672.1:g.5141080T>C GRCh37
NC_000010.9:g.5131080T>C NCBI36
NG_047094.1:g.55123T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000380554.5:c.447+9T>C (AKR1C3) MANE Select ENSP00000369927.3:n.447+9T>C
ENST00000380554.4:c.447+9T>C (AKR1C3) ENSP00000369927.3:n.447+9T>C
ENST00000407674.5:c.180+33786A>G (AKR1C2) ENSP00000385221.2:n.180+33786A>G
ENST00000434459.6:c.933-8573T>C (AKR1C1) ENSP00000412248.3:n.933-8573T>C
ENST00000439082.7:c.447+9T>C ENSP00000401327.3:n.447+9T>C
ENST00000602997.5:c.378+9T>C (AKR1C3) ENSP00000474188.1:n.378+9T>C
ENST00000605149.5:c.378+9T>C (AKR1C3) ENSP00000474882.1:n.378+9T>C
ENST00000605322.1:n.280-439T>C (AKR1C3)
ENST00000605781.5:n.626+9T>C (AKR1C3)
NM_001253908.1:c.447+9T>C (AKR1C3) NP_001240837.1:n.447+9T>C
NM_003739.5:c.447+9T>C (AKR1C3) NP_003730.4:n.447+9T>C
NM_003739.6:c.447+9T>C (AKR1C3) MANE Select NP_003730.4:n.447+9T>C
NM_001253908.2:c.447+9T>C (AKR1C3) NP_001240837.1:n.447+9T>C