Canonical Allele Identifier: CA375886138

Linked Data

dbSNP Id: rs782478841
gnomAD v2: 10-5141042-G-A
gnomAD v3: 10-5098850-G-A
gnomAD v4: 10-5098850-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.5098850G>A , CM000672.2:g.5098850G>A GRCh38
NC_000010.10:g.5141042G>A , CM000672.1:g.5141042G>A GRCh37
NC_000010.9:g.5131042G>A NCBI36
NG_047094.1:g.55085G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000380554.5:c.418G>A (AKR1C3) MANE Select ENSP00000369927.3:p.Asp140Asn
ENST00000380554.4:c.418G>A (AKR1C3) ENSP00000369927.3:p.Asp140Asn
ENST00000407674.5:c.180+33824C>T (AKR1C2) ENSP00000385221.2:n.180+33824C>T
ENST00000434459.6:c.933-8611G>A (AKR1C1) ENSP00000412248.3:n.933-8611G>A
ENST00000439082.7:c.418G>A ENSP00000401327.3:p.Asp140Asn
ENST00000602997.5:c.349G>A (AKR1C3) ENSP00000474188.1:p.Asp117Asn
ENST00000605149.5:c.349G>A (AKR1C3) ENSP00000474882.1:p.Asp117Asn
ENST00000605322.1:n.280-477G>A (AKR1C3)
ENST00000605781.5:n.597G>A (AKR1C3)
NM_001253908.1:c.418G>A (AKR1C3) NP_001240837.1:p.Asp140Asn
NM_003739.5:c.418G>A (AKR1C3) NP_003730.4:p.Asp140Asn
NM_003739.6:c.418G>A (AKR1C3) MANE Select NP_003730.4:p.Asp140Asn
NM_001253908.2:c.418G>A (AKR1C3) NP_001240837.1:p.Asp140Asn