Canonical Allele Identifier: CA443122149
Gene: SRD5A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.6651980C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.6651867C>A , CM000667.2:g.6651867C>A GRCh38
NC_000005.9:g.6651980C>A , CM000667.1:g.6651980C>A GRCh37
NC_000005.8:g.6704980C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000504286.2:c.319C>A ENSP00000518753.1:p.Arg107=
ENST00000510531.6:c.*440C>A ENSP00000425330.1:n.*440C>A
ENST00000274192.7:c.319C>A MANE Select ENSP00000274192.5:p.Arg107=
ENST00000274192.6:c.319C>A ENSP00000274192.5:p.Arg107=
ENST00000504286.1:n.440C>A
ENST00000510531.5:c.*440C>A ENSP00000425330.1:n.*440C>A
ENST00000513117.1:c.294-4211C>A ENSP00000421342.1:n.294-4211C>A
NM_001047.2:c.319C>A NP_001038.1:p.Arg107=
XM_011514103.1:c.320-4211C>A XP_011512405.1:n.320-4211C>A
NM_001047.3:c.319C>A NP_001038.1:p.Arg107=
NM_001324322.1:c.320-4211C>A NP_001311251.1:n.320-4211C>A
NM_001324323.1:c.100C>A NP_001311252.1:p.Arg34=
NR_136739.1:n.574C>A
NM_001047.4:c.319C>A MANE Select NP_001038.1:p.Arg107=
NM_001324322.2:c.320-4211C>A NP_001311251.1:n.320-4211C>A
NM_001324323.2:c.100C>A NP_001311252.1:p.Arg34=
NR_136739.2:n.456C>A