Canonical Allele Identifier: CA356956731

Gene: SRD5A3

Linked Data

• gnomAD v4: 4-55346464-G-T
• MyVariant Identifiers: chr4:g.56212631G>T (hg19) ; chr4:g.55346464G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.55346464G>T , CM000666.2:g.55346464G>T	GRCh38
NC_000004.11:g.56212631G>T , CM000666.1:g.56212631G>T	GRCh37
NC_000004.10:g.55907388G>T	NCBI36
NG_028230.1:g.5244G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264228.9:c.128G>T MANE Select	ENSP00000264228.4:p.Cys43Phe
ENST00000679351.1:c.128G>T	ENSP00000505676.1:p.Cys43Phe
ENST00000679707.1:c.128G>T	ENSP00000505713.1:p.Cys43Phe
ENST00000679836.1:c.128G>T	ENSP00000506601.1:p.Cys43Phe
ENST00000680700.1:c.128G>T	ENSP00000504926.1:p.Cys43Phe
ENST00000264228.8:c.128G>T	ENSP00000264228.4:p.Cys43Phe
ENST00000505210.1:c.53G>T	ENSP00000424714.1:p.Cys18Phe
NM_024592.4:c.128G>T	NP_078868.1:p.Cys43Phe
XM_005265766.2:c.128G>T	XP_005265823.1:p.Cys43Phe
XM_005265767.2:c.128G>T	XP_005265824.1:p.Cys43Phe
XM_005265766.4:c.128G>T	XP_005265823.1:p.Cys43Phe
XM_005265767.3:c.128G>T	XP_005265824.1:p.Cys43Phe
NM_024592.5:c.128G>T MANE Select	NP_078868.1:p.Cys43Phe