Canonical Allele Identifier: CA359134617

Gene: SRD5A1

Linked Data

• MyVariant Identifiers: chr5:g.6651975T>G (hg19) ; chr5:g.6651862T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.6651862T>G , CM000667.2:g.6651862T>G	GRCh38
NC_000005.9:g.6651975T>G , CM000667.1:g.6651975T>G	GRCh37
NC_000005.8:g.6704975T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504286.2:c.314T>G	ENSP00000518753.1:p.Leu105Arg
ENST00000510531.6:c.*435T>G	ENSP00000425330.1:n.*435T>G
ENST00000274192.7:c.314T>G MANE Select	ENSP00000274192.5:p.Leu105Arg
ENST00000274192.6:c.314T>G	ENSP00000274192.5:p.Leu105Arg
ENST00000504286.1:n.435T>G
ENST00000510531.5:c.*435T>G	ENSP00000425330.1:n.*435T>G
ENST00000513117.1:c.294-4216T>G	ENSP00000421342.1:n.294-4216T>G
NM_001047.2:c.314T>G	NP_001038.1:p.Leu105Arg
XM_011514103.1:c.320-4216T>G	XP_011512405.1:n.320-4216T>G
NM_001047.3:c.314T>G	NP_001038.1:p.Leu105Arg
NM_001324322.1:c.320-4216T>G	NP_001311251.1:n.320-4216T>G
NM_001324323.1:c.95T>G	NP_001311252.1:p.Leu32Arg
NR_136739.1:n.569T>G
NM_001047.4:c.314T>G MANE Select	NP_001038.1:p.Leu105Arg
NM_001324322.2:c.320-4216T>G	NP_001311251.1:n.320-4216T>G
NM_001324323.2:c.95T>G	NP_001311252.1:p.Leu32Arg
NR_136739.2:n.451T>G