Canonical Allele Identifier: CA359134649

Gene: SRD5A1

Linked Data

• gnomAD v4: 5-6651870-G-A
• COSMIC: COSM6410601
• MyVariant Identifiers: chr5:g.6651983G>A (hg19) ; chr5:g.6651870G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.6651870G>A , CM000667.2:g.6651870G>A	GRCh38
NC_000005.9:g.6651983G>A , CM000667.1:g.6651983G>A	GRCh37
NC_000005.8:g.6704983G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000504286.2:c.322G>A	ENSP00000518753.1:p.Gly108Arg
ENST00000510531.6:c.*443G>A	ENSP00000425330.1:n.*443G>A
ENST00000274192.7:c.322G>A MANE Select	ENSP00000274192.5:p.Gly108Arg
ENST00000274192.6:c.322G>A	ENSP00000274192.5:p.Gly108Arg
ENST00000504286.1:n.443G>A
ENST00000510531.5:c.*443G>A	ENSP00000425330.1:n.*443G>A
ENST00000513117.1:c.294-4208G>A	ENSP00000421342.1:n.294-4208G>A
NM_001047.2:c.322G>A	NP_001038.1:p.Gly108Arg
XM_011514103.1:c.320-4208G>A	XP_011512405.1:n.320-4208G>A
NM_001047.3:c.322G>A	NP_001038.1:p.Gly108Arg
NM_001324322.1:c.320-4208G>A	NP_001311251.1:n.320-4208G>A
NM_001324323.1:c.103G>A	NP_001311252.1:p.Gly35Arg
NR_136739.1:n.577G>A
NM_001047.4:c.322G>A MANE Select	NP_001038.1:p.Gly108Arg
NM_001324322.2:c.320-4208G>A	NP_001311251.1:n.320-4208G>A
NM_001324323.2:c.103G>A	NP_001311252.1:p.Gly35Arg
NR_136739.2:n.459G>A