Canonical Allele Identifier: CA97480748

Gene: SRD5A3

Linked Data

• dbSNP Id: rs912569978
• gnomAD v2: 4-56225685-T-C
• gnomAD v3: 4-55359518-T-C
• gnomAD v4: 4-55359518-T-C
• MyVariant Identifiers: chr4:g.56225685T>C (hg19) ; chr4:g.55359518T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.55359518T>C , CM000666.2:g.55359518T>C	GRCh38
NC_000004.11:g.56225685T>C , CM000666.1:g.56225685T>C	GRCh37
NC_000004.10:g.55920442T>C	NCBI36
NG_028230.1:g.18298T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264228.9:c.364+30T>C MANE Select	ENSP00000264228.4:n.364+30T>C
ENST00000677177.2:c.77+30T>C
ENST00000678717.1:n.261+30T>C
ENST00000679351.1:c.364+30T>C	ENSP00000505676.1:n.364+30T>C
ENST00000679707.1:c.364+30T>C	ENSP00000505713.1:n.364+30T>C
ENST00000679836.1:c.364+30T>C	ENSP00000506601.1:n.364+30T>C
ENST00000680700.1:c.364+30T>C	ENSP00000504926.1:n.364+30T>C
ENST00000264228.8:c.364+30T>C	ENSP00000264228.4:n.364+30T>C
ENST00000505210.1:c.289+30T>C	ENSP00000424714.1:n.289+30T>C
ENST00000514398.1:n.373+30T>C
NM_024592.4:c.364+30T>C	NP_078868.1:n.364+30T>C
XM_005265766.2:c.364+30T>C	XP_005265823.1:n.364+30T>C
XM_005265767.2:c.364+30T>C	XP_005265824.1:n.364+30T>C
XM_005265766.4:c.364+30T>C	XP_005265823.1:n.364+30T>C
XM_005265767.3:c.364+30T>C	XP_005265824.1:n.364+30T>C
XM_017008601.1:c.229+30T>C	XP_016864090.1:n.229+30T>C
NM_024592.5:c.364+30T>C MANE Select	NP_078868.1:n.364+30T>C