Canonical Allele Identifier: CA356956651

Gene: SRD5A3

Linked Data

• ClinVar Variation Id: 2119453
• ClinVar RCV Id: RCV003033101
• dbSNP Id: rs1560363160
• gnomAD v2: 4-56212586-T-G
• gnomAD v4: 4-55346419-T-G
• MyVariant Identifiers: chr4:g.56212586T>G (hg19) ; chr4:g.56212586_56212587delinsGG (hg19) ; chr4:g.55346419T>G (hg38) ; chr4:g.55346419_55346420delinsGG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.55346419T>G , CM000666.2:g.55346419T>G	GRCh38
NC_000004.11:g.56212586T>G , CM000666.1:g.56212586T>G	GRCh37
NC_000004.10:g.55907343T>G	NCBI36
NG_028230.1:g.5199T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264228.9:c.83T>G MANE Select	ENSP00000264228.4:p.Leu28Arg
ENST00000679351.1:c.83T>G	ENSP00000505676.1:p.Leu28Arg
ENST00000679707.1:c.83T>G	ENSP00000505713.1:p.Leu28Arg
ENST00000679836.1:c.83T>G	ENSP00000506601.1:p.Leu28Arg
ENST00000680700.1:c.83T>G	ENSP00000504926.1:p.Leu28Arg
ENST00000264228.8:c.83T>G	ENSP00000264228.4:p.Leu28Arg
ENST00000505210.1:c.8T>G	ENSP00000424714.1:p.Leu3Arg
NM_024592.4:c.83T>G	NP_078868.1:p.Leu28Arg
XM_005265766.2:c.83T>G	XP_005265823.1:p.Leu28Arg
XM_005265767.2:c.83T>G	XP_005265824.1:p.Leu28Arg
XM_005265766.4:c.83T>G	XP_005265823.1:p.Leu28Arg
XM_005265767.3:c.83T>G	XP_005265824.1:p.Leu28Arg
NM_024592.5:c.83T>G MANE Select	NP_078868.1:p.Leu28Arg