Canonical Allele Identifier: CA2925308

Gene: SRD5A3

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.55364215A>G , CM000666.2:g.55364215A>G	GRCh38
NC_000004.11:g.56230382A>G , CM000666.1:g.56230382A>G	GRCh37
NC_000004.10:g.55925139A>G	NCBI36
NG_028230.1:g.22995A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_024592.5:c.506A>G MANE Select	NP_078868.1:p.Tyr169Cys
ENST00000264228.9:c.506A>G MANE Select	ENSP00000264228.4:p.Tyr169Cys
NM_024592.4:c.506A>G	NP_078868.1:p.Tyr169Cys
ENST00000264228.8:c.506A>G	ENSP00000264228.4:p.Tyr169Cys
ENST00000505210.1:c.289+4727A>G	ENSP00000424714.1:n.289+4727A>G
ENST00000514398.1:n.515A>G
ENST00000677177.2:c.353A>G
ENST00000677217.1:n.378A>G
ENST00000678717.1:n.403A>G
ENST00000679351.1:c.*112A>G	ENSP00000505676.1:n.*112A>G
ENST00000679707.1:c.506A>G	ENSP00000505713.1:p.Tyr169Cys
ENST00000679836.1:c.506A>G	ENSP00000506601.1:p.Tyr169Cys
ENST00000680700.1:c.506A>G	ENSP00000504926.1:p.Tyr169Cys
XM_005265766.2:c.506A>G	XP_005265823.1:p.Tyr169Cys
XM_005265766.4:c.506A>G	XP_005265823.1:p.Tyr169Cys
XM_005265767.2:c.364+4727A>G	XP_005265824.1:n.364+4727A>G
XM_005265767.3:c.364+4727A>G	XP_005265824.1:n.364+4727A>G
XM_017008601.1:c.371A>G	XP_016864090.1:p.Tyr124Cys