Canonical Allele Identifier: CA356957117

Gene: SRD5A3

Linked Data

• gnomAD v4: 4-55359423-T-C
• COSMIC: COSM4729967
• MyVariant Identifiers: chr4:g.56225590T>C (hg19) ; chr4:g.55359423T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.55359423T>C , CM000666.2:g.55359423T>C	GRCh38
NC_000004.11:g.56225590T>C , CM000666.1:g.56225590T>C	GRCh37
NC_000004.10:g.55920347T>C	NCBI36
NG_028230.1:g.18203T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264228.9:c.299T>C MANE Select	ENSP00000264228.4:p.Leu100Pro
ENST00000677177.2:c.12T>C
ENST00000678717.1:n.196T>C
ENST00000679351.1:c.299T>C	ENSP00000505676.1:p.Leu100Pro
ENST00000679707.1:c.299T>C	ENSP00000505713.1:p.Leu100Pro
ENST00000679836.1:c.299T>C	ENSP00000506601.1:p.Leu100Pro
ENST00000680700.1:c.299T>C	ENSP00000504926.1:p.Leu100Pro
ENST00000264228.8:c.299T>C	ENSP00000264228.4:p.Leu100Pro
ENST00000505210.1:c.224T>C	ENSP00000424714.1:p.Leu75Pro
ENST00000514398.1:n.308T>C
NM_024592.4:c.299T>C	NP_078868.1:p.Leu100Pro
XM_005265766.2:c.299T>C	XP_005265823.1:p.Leu100Pro
XM_005265767.2:c.299T>C	XP_005265824.1:p.Leu100Pro
XM_005265766.4:c.299T>C	XP_005265823.1:p.Leu100Pro
XM_005265767.3:c.299T>C	XP_005265824.1:p.Leu100Pro
XM_017008601.1:c.164T>C	XP_016864090.1:p.Leu55Pro
NM_024592.5:c.299T>C MANE Select	NP_078868.1:p.Leu100Pro