Canonical Allele Identifier: CA359134632

Gene: SRD5A1

Linked Data

• MyVariant Identifiers: chr5:g.6651979G>C (hg19) ; chr5:g.6651866G>C (hg38)

Genomic Alleles

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

Transcript Alleles

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