Canonical Allele Identifier: CA359134640

Gene: SRD5A1

Linked Data

• gnomAD v4: 5-6651868-G-A
• MyVariant Identifiers: chr5:g.6651981G>A (hg19) ; chr5:g.6651868G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.6651868G>A , CM000667.2:g.6651868G>A	GRCh38
NC_000005.9:g.6651981G>A , CM000667.1:g.6651981G>A	GRCh37
NC_000005.8:g.6704981G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504286.2:c.320G>A	ENSP00000518753.1:p.Arg107Gln
ENST00000510531.6:c.*441G>A	ENSP00000425330.1:n.*441G>A
ENST00000274192.7:c.320G>A MANE Select	ENSP00000274192.5:p.Arg107Gln
ENST00000274192.6:c.320G>A	ENSP00000274192.5:p.Arg107Gln
ENST00000504286.1:n.441G>A
ENST00000510531.5:c.*441G>A	ENSP00000425330.1:n.*441G>A
ENST00000513117.1:c.294-4210G>A	ENSP00000421342.1:n.294-4210G>A
NM_001047.2:c.320G>A	NP_001038.1:p.Arg107Gln
XM_011514103.1:c.320-4210G>A	XP_011512405.1:n.320-4210G>A
NM_001047.3:c.320G>A	NP_001038.1:p.Arg107Gln
NM_001324322.1:c.320-4210G>A	NP_001311251.1:n.320-4210G>A
NM_001324323.1:c.101G>A	NP_001311252.1:p.Arg34Gln
NR_136739.1:n.575G>A
NM_001047.4:c.320G>A MANE Select	NP_001038.1:p.Arg107Gln
NM_001324322.2:c.320-4210G>A	NP_001311251.1:n.320-4210G>A
NM_001324323.2:c.101G>A	NP_001311252.1:p.Arg34Gln
NR_136739.2:n.457G>A