Canonical Allele Identifier: CA359134640
Gene: SRD5A1 HGNC NCBI

Linked Data

gnomAD v4: 5-6651868-G-A

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