Canonical Allele Identifier: CA359134634
Gene: SRD5A1 HGNC NCBI

Linked Data

dbSNP Id: rs1290548903
gnomAD v2: 5-6651979-G-T
gnomAD v4: 5-6651866-G-T

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