Canonical Allele Identifier: CA2578275999

Gene: SRD5A1

Linked Data

• gnomAD v4: 5-6651785-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.6651785A>G , CM000667.2:g.6651785A>G	GRCh38
NC_000005.9:g.6651898A>G , CM000667.1:g.6651898A>G	GRCh37
NC_000005.8:g.6704898A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504286.2:c.294-57A>G	ENSP00000518753.1:n.294-57A>G
ENST00000510531.6:c.*415-57A>G	ENSP00000425330.1:n.*415-57A>G
ENST00000274192.7:c.294-57A>G MANE Select	ENSP00000274192.5:n.294-57A>G
ENST00000274192.6:c.294-57A>G	ENSP00000274192.5:n.294-57A>G
ENST00000504286.1:n.415-57A>G
ENST00000510531.5:c.*415-57A>G	ENSP00000425330.1:n.*415-57A>G
ENST00000513117.1:c.294-4293A>G	ENSP00000421342.1:n.294-4293A>G
NM_001047.2:c.294-57A>G	NP_001038.1:n.294-57A>G
XM_011514103.1:c.320-4293A>G	XP_011512405.1:n.320-4293A>G
NM_001047.3:c.294-57A>G	NP_001038.1:n.294-57A>G
NM_001324322.1:c.320-4293A>G	NP_001311251.1:n.320-4293A>G
NM_001324323.1:c.75-57A>G	NP_001311252.1:n.75-57A>G
NR_136739.1:n.549-57A>G
NM_001047.4:c.294-57A>G MANE Select	NP_001038.1:n.294-57A>G
NM_001324322.2:c.320-4293A>G	NP_001311251.1:n.320-4293A>G
NM_001324323.2:c.75-57A>G	NP_001311252.1:n.75-57A>G
NR_136739.2:n.431-57A>G