Canonical Allele Identifier: CA356956659

Gene: SRD5A3

Linked Data

• gnomAD v4: 4-55346424-C-A
• MyVariant Identifiers: chr4:g.56212591C>A (hg19) ; chr4:g.55346424C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.55346424C>A , CM000666.2:g.55346424C>A	GRCh38
NC_000004.11:g.56212591C>A , CM000666.1:g.56212591C>A	GRCh37
NC_000004.10:g.55907348C>A	NCBI36
NG_028230.1:g.5204C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264228.9:c.88C>A MANE Select	ENSP00000264228.4:p.Leu30Ile
ENST00000679351.1:c.88C>A	ENSP00000505676.1:p.Leu30Ile
ENST00000679707.1:c.88C>A	ENSP00000505713.1:p.Leu30Ile
ENST00000679836.1:c.88C>A	ENSP00000506601.1:p.Leu30Ile
ENST00000680700.1:c.88C>A	ENSP00000504926.1:p.Leu30Ile
ENST00000264228.8:c.88C>A	ENSP00000264228.4:p.Leu30Ile
ENST00000505210.1:c.13C>A	ENSP00000424714.1:p.Leu5Ile
NM_024592.4:c.88C>A	NP_078868.1:p.Leu30Ile
XM_005265766.2:c.88C>A	XP_005265823.1:p.Leu30Ile
XM_005265767.2:c.88C>A	XP_005265824.1:p.Leu30Ile
XM_005265766.4:c.88C>A	XP_005265823.1:p.Leu30Ile
XM_005265767.3:c.88C>A	XP_005265824.1:p.Leu30Ile
NM_024592.5:c.88C>A MANE Select	NP_078868.1:p.Leu30Ile