Canonical Allele Identifier: CA97480741

Gene: SRD5A3

Linked Data

• dbSNP Id: rs1050082261
• gnomAD v3: 4-55359370-C-T
• gnomAD v4: 4-55359370-C-T
• MyVariant Identifiers: chr4:g.56225537C>T (hg19) ; chr4:g.55359370C>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264228.9:c.246C>T MANE Select	ENSP00000264228.4:p.Ile82=
ENST00000678717.1:n.143C>T
ENST00000679351.1:c.246C>T	ENSP00000505676.1:p.Ile82=
ENST00000679707.1:c.246C>T	ENSP00000505713.1:p.Ile82=
ENST00000679836.1:c.246C>T	ENSP00000506601.1:p.Ile82=
ENST00000680700.1:c.246C>T	ENSP00000504926.1:p.Ile82=
ENST00000264228.8:c.246C>T	ENSP00000264228.4:p.Ile82=
ENST00000505210.1:c.171C>T	ENSP00000424714.1:p.Ile57=
ENST00000514398.1:n.255C>T
NM_024592.4:c.246C>T	NP_078868.1:p.Ile82=
XM_005265766.2:c.246C>T	XP_005265823.1:p.Ile82=
XM_005265767.2:c.246C>T	XP_005265824.1:p.Ile82=
XM_005265766.4:c.246C>T	XP_005265823.1:p.Ile82=
XM_005265767.3:c.246C>T	XP_005265824.1:p.Ile82=
XM_017008601.1:c.111C>T	XP_016864090.1:p.Ile37=
NM_024592.5:c.246C>T MANE Select	NP_078868.1:p.Ile82=