Canonical Allele Identifier: CA356957518

Gene: SRD5A3

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.55364193C>T , CM000666.2:g.55364193C>T	GRCh38
NC_000004.11:g.56230360C>T , CM000666.1:g.56230360C>T	GRCh37
NC_000004.10:g.55925117C>T	NCBI36
NG_028230.1:g.22973C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_024592.5:c.484C>T MANE Select	NP_078868.1:p.Gln162Ter
ENST00000264228.9:c.484C>T MANE Select	ENSP00000264228.4:p.Gln162Ter
NM_024592.4:c.484C>T	NP_078868.1:p.Gln162Ter
ENST00000264228.8:c.484C>T	ENSP00000264228.4:p.Gln162Ter
ENST00000505210.1:c.289+4705C>T	ENSP00000424714.1:n.289+4705C>T
ENST00000514398.1:n.493C>T
ENST00000677177.2:c.331C>T
ENST00000677217.1:n.356C>T
ENST00000678717.1:n.381C>T
ENST00000679351.1:c.*90C>T	ENSP00000505676.1:n.*90C>T
ENST00000679707.1:c.484C>T	ENSP00000505713.1:p.Gln162Ter
ENST00000679836.1:c.484C>T	ENSP00000506601.1:p.Gln162Ter
ENST00000680700.1:c.484C>T	ENSP00000504926.1:p.Gln162Ter
XM_005265766.2:c.484C>T	XP_005265823.1:p.Gln162Ter
XM_005265766.4:c.484C>T	XP_005265823.1:p.Gln162Ter
XM_005265767.2:c.364+4705C>T	XP_005265824.1:n.364+4705C>T
XM_005265767.3:c.364+4705C>T	XP_005265824.1:n.364+4705C>T
XM_017008601.1:c.349C>T	XP_016864090.1:p.Gln117Ter