Canonical Allele Identifier: CA238976

Gene: SRD5A3

Linked Data

• ClinVar Variation Id: 193456
• ClinVar RCV Id: RCV000173527 ; RCV000724316 ; RCV001088891
• dbSNP Id: rs376944136
• ExAC: 4:56212546 C / T
• gnomAD v2: 4-56212546-C-T
• gnomAD v3: 4-55346379-C-T
• gnomAD v4: 4-55346379-C-T
• MyVariant Identifiers: chr4:g.56212546C>T (hg19) ; chr4:g.55346379C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.55346379C>T , CM000666.2:g.55346379C>T	GRCh38
NC_000004.11:g.56212546C>T , CM000666.1:g.56212546C>T	GRCh37
NC_000004.10:g.55907303C>T	NCBI36
NG_028230.1:g.5159C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264228.9:c.43C>T MANE Select	ENSP00000264228.4:p.Leu15=
ENST00000679351.1:c.43C>T	ENSP00000505676.1:p.Leu15=
ENST00000679707.1:c.43C>T	ENSP00000505713.1:p.Leu15=
ENST00000679836.1:c.43C>T	ENSP00000506601.1:p.Leu15=
ENST00000680700.1:c.43C>T	ENSP00000504926.1:p.Leu15=
ENST00000264228.8:c.43C>T	ENSP00000264228.4:p.Leu15=
NM_024592.4:c.43C>T	NP_078868.1:p.Leu15=
XM_005265766.2:c.43C>T	XP_005265823.1:p.Leu15=
XM_005265767.2:c.43C>T	XP_005265824.1:p.Leu15=
XM_005265766.4:c.43C>T	XP_005265823.1:p.Leu15=
XM_005265767.3:c.43C>T	XP_005265824.1:p.Leu15=
NM_024592.5:c.43C>T MANE Select	NP_078868.1:p.Leu15=