Canonical Allele Identifier: CA359134634

Gene: SRD5A1

Linked Data

• dbSNP Id: rs1290548903
• gnomAD v2: 5-6651979-G-T
• gnomAD v4: 5-6651866-G-T
• MyVariant Identifiers: chr5:g.6651979G>T (hg19) ; chr5:g.6651866G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.6651866G>T , CM000667.2:g.6651866G>T	GRCh38
NC_000005.9:g.6651979G>T , CM000667.1:g.6651979G>T	GRCh37
NC_000005.8:g.6704979G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000504286.2:c.318G>T	ENSP00000518753.1:p.Met106Ile
ENST00000510531.6:c.*439G>T	ENSP00000425330.1:n.*439G>T
ENST00000274192.7:c.318G>T MANE Select	ENSP00000274192.5:p.Met106Ile
ENST00000274192.6:c.318G>T	ENSP00000274192.5:p.Met106Ile
ENST00000504286.1:n.439G>T
ENST00000510531.5:c.*439G>T	ENSP00000425330.1:n.*439G>T
ENST00000513117.1:c.294-4212G>T	ENSP00000421342.1:n.294-4212G>T
NM_001047.2:c.318G>T	NP_001038.1:p.Met106Ile
XM_011514103.1:c.320-4212G>T	XP_011512405.1:n.320-4212G>T
NM_001047.3:c.318G>T	NP_001038.1:p.Met106Ile
NM_001324322.1:c.320-4212G>T	NP_001311251.1:n.320-4212G>T
NM_001324323.1:c.99G>T	NP_001311252.1:p.Met33Ile
NR_136739.1:n.573G>T
NM_001047.4:c.318G>T MANE Select	NP_001038.1:p.Met106Ile
NM_001324322.2:c.320-4212G>T	NP_001311251.1:n.320-4212G>T
NM_001324323.2:c.99G>T	NP_001311252.1:p.Met33Ile
NR_136739.2:n.455G>T