Canonical Allele Identifier: CA2569479295
Gene: SRD5A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.6651541T>A , CM000667.2:g.6651541T>A GRCh38
NC_000005.9:g.6651654T>A , CM000667.1:g.6651654T>A GRCh37
NC_000005.8:g.6704654T>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000504286.2:c.294-301T>A ENSP00000518753.1:n.294-301T>A
ENST00000510531.6:c.*415-301T>A ENSP00000425330.1:n.*415-301T>A
ENST00000274192.7:c.294-301T>A MANE Select ENSP00000274192.5:n.294-301T>A
ENST00000274192.6:c.294-301T>A ENSP00000274192.5:n.294-301T>A
ENST00000504286.1:n.415-301T>A
ENST00000510531.5:c.*415-301T>A ENSP00000425330.1:n.*415-301T>A
ENST00000513117.1:c.294-4537T>A ENSP00000421342.1:n.294-4537T>A
NM_001047.2:c.294-301T>A NP_001038.1:n.294-301T>A
XM_011514103.1:c.320-4537T>A XP_011512405.1:n.320-4537T>A
NM_001047.3:c.294-301T>A NP_001038.1:n.294-301T>A
NM_001324322.1:c.320-4537T>A NP_001311251.1:n.320-4537T>A
NM_001324323.1:c.75-301T>A NP_001311252.1:n.75-301T>A
NR_136739.1:n.549-301T>A
NM_001047.4:c.294-301T>A MANE Select NP_001038.1:n.294-301T>A
NM_001324322.2:c.320-4537T>A NP_001311251.1:n.320-4537T>A
NM_001324323.2:c.75-301T>A NP_001311252.1:n.75-301T>A
NR_136739.2:n.431-301T>A