Canonical Allele Identifier: CA359134597
Gene: SRD5A1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.6651858T>C , CM000667.2:g.6651858T>C GRCh38
NC_000005.9:g.6651971T>C , CM000667.1:g.6651971T>C GRCh37
NC_000005.8:g.6704971T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000504286.2:c.310T>C ENSP00000518753.1:p.Phe104Leu
ENST00000510531.6:c.*431T>C ENSP00000425330.1:n.*431T>C
ENST00000274192.7:c.310T>C MANE Select ENSP00000274192.5:p.Phe104Leu
ENST00000274192.6:c.310T>C ENSP00000274192.5:p.Phe104Leu
ENST00000504286.1:n.431T>C
ENST00000510531.5:c.*431T>C ENSP00000425330.1:n.*431T>C
ENST00000513117.1:c.294-4220T>C ENSP00000421342.1:n.294-4220T>C
NM_001047.2:c.310T>C NP_001038.1:p.Phe104Leu
XM_011514103.1:c.320-4220T>C XP_011512405.1:n.320-4220T>C
NM_001047.3:c.310T>C NP_001038.1:p.Phe104Leu
NM_001324322.1:c.320-4220T>C NP_001311251.1:n.320-4220T>C
NM_001324323.1:c.91T>C NP_001311252.1:p.Phe31Leu
NR_136739.1:n.565T>C
NM_001047.4:c.310T>C MANE Select NP_001038.1:p.Phe104Leu
NM_001324322.2:c.320-4220T>C NP_001311251.1:n.320-4220T>C
NM_001324323.2:c.91T>C NP_001311252.1:p.Phe31Leu
NR_136739.2:n.447T>C