Canonical Allele Identifier: CA97480742

Gene: SRD5A3

Linked Data

• ClinVar Variation Id: 2237167
• ClinVar RCV Id: RCV002761944
• dbSNP Id: rs893706862
• gnomAD v2: 4-56225554-G-C
• gnomAD v3: 4-55359387-G-C
• gnomAD v4: 4-55359387-G-C
• MyVariant Identifiers: chr4:g.56225554G>C (hg19) ; chr4:g.55359387G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.55359387G>C , CM000666.2:g.55359387G>C	GRCh38
NC_000004.11:g.56225554G>C , CM000666.1:g.56225554G>C	GRCh37
NC_000004.10:g.55920311G>C	NCBI36
NG_028230.1:g.18167G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264228.9:c.263G>C MANE Select	ENSP00000264228.4:p.Gly88Ala
ENST00000678717.1:n.160G>C
ENST00000679351.1:c.263G>C	ENSP00000505676.1:p.Gly88Ala
ENST00000679707.1:c.263G>C	ENSP00000505713.1:p.Gly88Ala
ENST00000679836.1:c.263G>C	ENSP00000506601.1:p.Gly88Ala
ENST00000680700.1:c.263G>C	ENSP00000504926.1:p.Gly88Ala
ENST00000264228.8:c.263G>C	ENSP00000264228.4:p.Gly88Ala
ENST00000505210.1:c.188G>C	ENSP00000424714.1:p.Gly63Ala
ENST00000514398.1:n.272G>C
NM_024592.4:c.263G>C	NP_078868.1:p.Gly88Ala
XM_005265766.2:c.263G>C	XP_005265823.1:p.Gly88Ala
XM_005265767.2:c.263G>C	XP_005265824.1:p.Gly88Ala
XM_005265766.4:c.263G>C	XP_005265823.1:p.Gly88Ala
XM_005265767.3:c.263G>C	XP_005265824.1:p.Gly88Ala
XM_017008601.1:c.128G>C	XP_016864090.1:p.Gly43Ala
NM_024592.5:c.263G>C MANE Select	NP_078868.1:p.Gly88Ala