Canonical Allele Identifier: CA5390568

Gene: AKR1C3 AKR1C2 AKR1C1

Linked Data

• dbSNP Id: rs782686793
• ExAC: 10:5141055 T / G
• gnomAD v2: 10-5141055-T-G
• gnomAD v4: 10-5098863-T-G
• MyVariant Identifiers: chr10:g.5141055T>G (hg19) ; chr10:g.5098863T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.5098863T>G , CM000672.2:g.5098863T>G	GRCh38
NC_000010.10:g.5141055T>G , CM000672.1:g.5141055T>G	GRCh37
NC_000010.9:g.5131055T>G	NCBI36
NG_047094.1:g.55098T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000380554.5:c.431T>G (AKR1C3) MANE Select	ENSP00000369927.3:p.Leu144Arg
ENST00000380554.4:c.431T>G (AKR1C3)	ENSP00000369927.3:p.Leu144Arg
ENST00000407674.5:c.180+33811A>C (AKR1C2)	ENSP00000385221.2:n.180+33811A>C
ENST00000434459.6:c.933-8598T>G (AKR1C1)	ENSP00000412248.3:n.933-8598T>G
ENST00000439082.7:c.431T>G	ENSP00000401327.3:p.Leu144Arg
ENST00000602997.5:c.362T>G (AKR1C3)	ENSP00000474188.1:p.Leu121Arg
ENST00000605149.5:c.362T>G (AKR1C3)	ENSP00000474882.1:p.Leu121Arg
ENST00000605322.1:n.280-464T>G (AKR1C3)
ENST00000605781.5:n.610T>G (AKR1C3)
NM_001253908.1:c.431T>G (AKR1C3)	NP_001240837.1:p.Leu144Arg
NM_003739.5:c.431T>G (AKR1C3)	NP_003730.4:p.Leu144Arg
NM_003739.6:c.431T>G (AKR1C3) MANE Select	NP_003730.4:p.Leu144Arg
NM_001253908.2:c.431T>G (AKR1C3)	NP_001240837.1:p.Leu144Arg