Canonical Allele Identifier: CA356957124

Gene: SRD5A3

Linked Data

• dbSNP Id: rs1719593647
• gnomAD v4: 4-55359426-G-C
• MyVariant Identifiers: chr4:g.56225593G>C (hg19) ; chr4:g.55359426G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.55359426G>C , CM000666.2:g.55359426G>C	GRCh38
NC_000004.11:g.56225593G>C , CM000666.1:g.56225593G>C	GRCh37
NC_000004.10:g.55920350G>C	NCBI36
NG_028230.1:g.18206G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264228.9:c.302G>C MANE Select	ENSP00000264228.4:p.Gly101Ala
ENST00000677177.2:c.15G>C
ENST00000678717.1:n.199G>C
ENST00000679351.1:c.302G>C	ENSP00000505676.1:p.Gly101Ala
ENST00000679707.1:c.302G>C	ENSP00000505713.1:p.Gly101Ala
ENST00000679836.1:c.302G>C	ENSP00000506601.1:p.Gly101Ala
ENST00000680700.1:c.302G>C	ENSP00000504926.1:p.Gly101Ala
ENST00000264228.8:c.302G>C	ENSP00000264228.4:p.Gly101Ala
ENST00000505210.1:c.227G>C	ENSP00000424714.1:p.Gly76Ala
ENST00000514398.1:n.311G>C
NM_024592.4:c.302G>C	NP_078868.1:p.Gly101Ala
XM_005265766.2:c.302G>C	XP_005265823.1:p.Gly101Ala
XM_005265767.2:c.302G>C	XP_005265824.1:p.Gly101Ala
XM_005265766.4:c.302G>C	XP_005265823.1:p.Gly101Ala
XM_005265767.3:c.302G>C	XP_005265824.1:p.Gly101Ala
XM_017008601.1:c.167G>C	XP_016864090.1:p.Gly56Ala
NM_024592.5:c.302G>C MANE Select	NP_078868.1:p.Gly101Ala