Canonical Allele Identifier: CA5390569

Linked Data

dbSNP Id: rs781847053
gnomAD v2: 10-5141056-C-G
gnomAD v3: 10-5098864-C-G
gnomAD v4: 10-5098864-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.5098864C>G , CM000672.2:g.5098864C>G GRCh38
NC_000010.10:g.5141056C>G , CM000672.1:g.5141056C>G GRCh37
NC_000010.9:g.5131056C>G NCBI36
NG_047094.1:g.55099C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000380554.5:c.432C>G (AKR1C3) MANE Select ENSP00000369927.3:p.Leu144=
ENST00000380554.4:c.432C>G (AKR1C3) ENSP00000369927.3:p.Leu144=
ENST00000407674.5:c.180+33810G>C (AKR1C2) ENSP00000385221.2:n.180+33810G>C
ENST00000434459.6:c.933-8597C>G (AKR1C1) ENSP00000412248.3:n.933-8597C>G
ENST00000439082.7:c.432C>G ENSP00000401327.3:p.Leu144=
ENST00000602997.5:c.363C>G (AKR1C3) ENSP00000474188.1:p.Leu121=
ENST00000605149.5:c.363C>G (AKR1C3) ENSP00000474882.1:p.Leu121=
ENST00000605322.1:n.280-463C>G (AKR1C3)
ENST00000605781.5:n.611C>G (AKR1C3)
NM_001253908.1:c.432C>G (AKR1C3) NP_001240837.1:p.Leu144=
NM_003739.5:c.432C>G (AKR1C3) NP_003730.4:p.Leu144=
NM_003739.6:c.432C>G (AKR1C3) MANE Select NP_003730.4:p.Leu144=
NM_001253908.2:c.432C>G (AKR1C3) NP_001240837.1:p.Leu144=