Canonical Allele Identifier: CA3193074

Gene: SRD5A1

Linked Data

• dbSNP Id: rs777666954
• ExAC: 5:6651906 G / A
• gnomAD v2: 5-6651906-G-A
• gnomAD v4: 5-6651793-G-A
• MyVariant Identifiers: chr5:g.6651906G>A (hg19) ; chr5:g.6651793G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.6651793G>A , CM000667.2:g.6651793G>A	GRCh38
NC_000005.9:g.6651906G>A , CM000667.1:g.6651906G>A	GRCh37
NC_000005.8:g.6704906G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000504286.2:c.294-49G>A	ENSP00000518753.1:n.294-49G>A
ENST00000510531.6:c.*415-49G>A	ENSP00000425330.1:n.*415-49G>A
ENST00000274192.7:c.294-49G>A MANE Select	ENSP00000274192.5:n.294-49G>A
ENST00000274192.6:c.294-49G>A	ENSP00000274192.5:n.294-49G>A
ENST00000504286.1:n.415-49G>A
ENST00000510531.5:c.*415-49G>A	ENSP00000425330.1:n.*415-49G>A
ENST00000513117.1:c.294-4285G>A	ENSP00000421342.1:n.294-4285G>A
NM_001047.2:c.294-49G>A	NP_001038.1:n.294-49G>A
XM_011514103.1:c.320-4285G>A	XP_011512405.1:n.320-4285G>A
NM_001047.3:c.294-49G>A	NP_001038.1:n.294-49G>A
NM_001324322.1:c.320-4285G>A	NP_001311251.1:n.320-4285G>A
NM_001324323.1:c.75-49G>A	NP_001311252.1:n.75-49G>A
NR_136739.1:n.549-49G>A
NM_001047.4:c.294-49G>A MANE Select	NP_001038.1:n.294-49G>A
NM_001324322.2:c.320-4285G>A	NP_001311251.1:n.320-4285G>A
NM_001324323.2:c.75-49G>A	NP_001311252.1:n.75-49G>A
NR_136739.2:n.431-49G>A