Canonical Allele Identifier: CA3193094

Gene: SRD5A1

Linked Data

• dbSNP Id: rs544223350
• ExAC: 5:6651980 C / T
• gnomAD v2: 5-6651980-C-T
• gnomAD v3: 5-6651867-C-T
• gnomAD v4: 5-6651867-C-T
• MyVariant Identifiers: chr5:g.6651980C>T (hg19) ; chr5:g.6651867C>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504286.2:c.319C>T	ENSP00000518753.1:p.Arg107Ter
ENST00000510531.6:c.*440C>T	ENSP00000425330.1:n.*440C>T
ENST00000274192.7:c.319C>T MANE Select	ENSP00000274192.5:p.Arg107Ter
ENST00000274192.6:c.319C>T	ENSP00000274192.5:p.Arg107Ter
ENST00000504286.1:n.440C>T
ENST00000510531.5:c.*440C>T	ENSP00000425330.1:n.*440C>T
ENST00000513117.1:c.294-4211C>T	ENSP00000421342.1:n.294-4211C>T
NM_001047.2:c.319C>T	NP_001038.1:p.Arg107Ter
XM_011514103.1:c.320-4211C>T	XP_011512405.1:n.320-4211C>T
NM_001047.3:c.319C>T	NP_001038.1:p.Arg107Ter
NM_001324322.1:c.320-4211C>T	NP_001311251.1:n.320-4211C>T
NM_001324323.1:c.100C>T	NP_001311252.1:p.Arg34Ter
NR_136739.1:n.574C>T
NM_001047.4:c.319C>T MANE Select	NP_001038.1:p.Arg107Ter
NM_001324322.2:c.320-4211C>T	NP_001311251.1:n.320-4211C>T
NM_001324323.2:c.100C>T	NP_001311252.1:p.Arg34Ter
NR_136739.2:n.456C>T