Canonical Allele Identifier: CA359134597

Gene: SRD5A1

Linked Data

• MyVariant Identifiers: chr5:g.6651971T>C (hg19) ; chr5:g.6651858T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.6651858T>C , CM000667.2:g.6651858T>C	GRCh38
NC_000005.9:g.6651971T>C , CM000667.1:g.6651971T>C	GRCh37
NC_000005.8:g.6704971T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000504286.2:c.310T>C	ENSP00000518753.1:p.Phe104Leu
ENST00000510531.6:c.*431T>C	ENSP00000425330.1:n.*431T>C
ENST00000274192.7:c.310T>C MANE Select	ENSP00000274192.5:p.Phe104Leu
ENST00000274192.6:c.310T>C	ENSP00000274192.5:p.Phe104Leu
ENST00000504286.1:n.431T>C
ENST00000510531.5:c.*431T>C	ENSP00000425330.1:n.*431T>C
ENST00000513117.1:c.294-4220T>C	ENSP00000421342.1:n.294-4220T>C
NM_001047.2:c.310T>C	NP_001038.1:p.Phe104Leu
XM_011514103.1:c.320-4220T>C	XP_011512405.1:n.320-4220T>C
NM_001047.3:c.310T>C	NP_001038.1:p.Phe104Leu
NM_001324322.1:c.320-4220T>C	NP_001311251.1:n.320-4220T>C
NM_001324323.1:c.91T>C	NP_001311252.1:p.Phe31Leu
NR_136739.1:n.565T>C
NM_001047.4:c.310T>C MANE Select	NP_001038.1:p.Phe104Leu
NM_001324322.2:c.320-4220T>C	NP_001311251.1:n.320-4220T>C
NM_001324323.2:c.91T>C	NP_001311252.1:p.Phe31Leu
NR_136739.2:n.447T>C