Canonical Allele Identifier: CA97480740

Gene: SRD5A3

Linked Data

• dbSNP Id: rs34570987
• MyVariant Identifiers: chr4:g.56225536_56225537insC (hg19) ; chr4:g.55359369_55359370insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.55359370dup , CM000666.2:g.55359370dup	GRCh38
NC_000004.11:g.56225537dup , CM000666.1:g.56225537dup	GRCh37
NC_000004.10:g.55920294dup	NCBI36
NG_028230.1:g.18150dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264228.9:c.246dup MANE Select	ENSP00000264228.4:p.Ser83LeufsTer?
ENST00000678717.1:n.143dup
ENST00000679351.1:c.246dup	ENSP00000505676.1:p.Ser83LeufsTer?
ENST00000679707.1:c.246dup	ENSP00000505713.1:p.Ser83LeufsTer?
ENST00000679836.1:c.246dup	ENSP00000506601.1:p.Ser83LeufsTer?
ENST00000680700.1:c.246dup	ENSP00000504926.1:p.Ser83LeufsTer?
ENST00000264228.8:c.246dup	ENSP00000264228.4:p.Ser83LeufsTer?
ENST00000505210.1:c.171dup	ENSP00000424714.1:p.Ser58LeufsTer?
ENST00000514398.1:n.255dup
NM_024592.4:c.246dup	NP_078868.1:p.Ser83LeufsTer?
XM_005265766.2:c.246dup	XP_005265823.1:p.Ser83LeufsTer?
XM_005265767.2:c.246dup	XP_005265824.1:p.Ser83LeufsTer?
XM_005265766.4:c.246dup	XP_005265823.1:p.Ser83LeufsTer?
XM_005265767.3:c.246dup	XP_005265824.1:p.Ser83LeufsTer?
XM_017008601.1:c.111dup	XP_016864090.1:p.Ser38LeufsTer?
NM_024592.5:c.246dup MANE Select	NP_078868.1:p.Ser83LeufsTer?