Canonical Allele Identifier: CA375886166

Gene: AKR1C3 AKR1C2 AKR1C1

Linked Data

• dbSNP Id: rs1554785548
• gnomAD v2: 10-5141054-C-T
• gnomAD v4: 10-5098862-C-T
• MyVariant Identifiers: chr10:g.5141054C>T (hg19) ; chr10:g.5098862C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.5098862C>T , CM000672.2:g.5098862C>T	GRCh38
NC_000010.10:g.5141054C>T , CM000672.1:g.5141054C>T	GRCh37
NC_000010.9:g.5131054C>T	NCBI36
NG_047094.1:g.55097C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000380554.5:c.430C>T (AKR1C3) MANE Select	ENSP00000369927.3:p.Leu144Phe
ENST00000380554.4:c.430C>T (AKR1C3)	ENSP00000369927.3:p.Leu144Phe
ENST00000407674.5:c.180+33812G>A (AKR1C2)	ENSP00000385221.2:n.180+33812G>A
ENST00000434459.6:c.933-8599C>T (AKR1C1)	ENSP00000412248.3:n.933-8599C>T
ENST00000439082.7:c.430C>T	ENSP00000401327.3:p.Leu144Phe
ENST00000602997.5:c.361C>T (AKR1C3)	ENSP00000474188.1:p.Leu121Phe
ENST00000605149.5:c.361C>T (AKR1C3)	ENSP00000474882.1:p.Leu121Phe
ENST00000605322.1:n.280-465C>T (AKR1C3)
ENST00000605781.5:n.609C>T (AKR1C3)
NM_001253908.1:c.430C>T (AKR1C3)	NP_001240837.1:p.Leu144Phe
NM_003739.5:c.430C>T (AKR1C3)	NP_003730.4:p.Leu144Phe
NM_003739.6:c.430C>T (AKR1C3) MANE Select	NP_003730.4:p.Leu144Phe
NM_001253908.2:c.430C>T (AKR1C3)	NP_001240837.1:p.Leu144Phe