Canonical Allele Identifier: CA2925248

Gene: SRD5A3

Linked Data

• dbSNP Id: rs746982369
• ExAC: 4:56225539 C / T
• gnomAD v2: 4-56225539-C-T
• gnomAD v4: 4-55359372-C-T
• MyVariant Identifiers: chr4:g.56225539C>T (hg19) ; chr4:g.55359372C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.55359372C>T , CM000666.2:g.55359372C>T	GRCh38
NC_000004.11:g.56225539C>T , CM000666.1:g.56225539C>T	GRCh37
NC_000004.10:g.55920296C>T	NCBI36
NG_028230.1:g.18152C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264228.9:c.248C>T MANE Select	ENSP00000264228.4:p.Ser83Leu
ENST00000678717.1:n.145C>T
ENST00000679351.1:c.248C>T	ENSP00000505676.1:p.Ser83Leu
ENST00000679707.1:c.248C>T	ENSP00000505713.1:p.Ser83Leu
ENST00000679836.1:c.248C>T	ENSP00000506601.1:p.Ser83Leu
ENST00000680700.1:c.248C>T	ENSP00000504926.1:p.Ser83Leu
ENST00000264228.8:c.248C>T	ENSP00000264228.4:p.Ser83Leu
ENST00000505210.1:c.173C>T	ENSP00000424714.1:p.Ser58Leu
ENST00000514398.1:n.257C>T
NM_024592.4:c.248C>T	NP_078868.1:p.Ser83Leu
XM_005265766.2:c.248C>T	XP_005265823.1:p.Ser83Leu
XM_005265767.2:c.248C>T	XP_005265824.1:p.Ser83Leu
XM_005265766.4:c.248C>T	XP_005265823.1:p.Ser83Leu
XM_005265767.3:c.248C>T	XP_005265824.1:p.Ser83Leu
XM_017008601.1:c.113C>T	XP_016864090.1:p.Ser38Leu
NM_024592.5:c.248C>T MANE Select	NP_078868.1:p.Ser83Leu