Canonical Allele Identifier: CA359134621

Gene: SRD5A1

Linked Data

• MyVariant Identifiers: chr5:g.6651977A>T (hg19) ; chr5:g.6651864A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.6651864A>T , CM000667.2:g.6651864A>T	GRCh38
NC_000005.9:g.6651977A>T , CM000667.1:g.6651977A>T	GRCh37
NC_000005.8:g.6704977A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504286.2:c.316A>T	ENSP00000518753.1:p.Met106Leu
ENST00000510531.6:c.*437A>T	ENSP00000425330.1:n.*437A>T
ENST00000274192.7:c.316A>T MANE Select	ENSP00000274192.5:p.Met106Leu
ENST00000274192.6:c.316A>T	ENSP00000274192.5:p.Met106Leu
ENST00000504286.1:n.437A>T
ENST00000510531.5:c.*437A>T	ENSP00000425330.1:n.*437A>T
ENST00000513117.1:c.294-4214A>T	ENSP00000421342.1:n.294-4214A>T
NM_001047.2:c.316A>T	NP_001038.1:p.Met106Leu
XM_011514103.1:c.320-4214A>T	XP_011512405.1:n.320-4214A>T
NM_001047.3:c.316A>T	NP_001038.1:p.Met106Leu
NM_001324322.1:c.320-4214A>T	NP_001311251.1:n.320-4214A>T
NM_001324323.1:c.97A>T	NP_001311252.1:p.Met33Leu
NR_136739.1:n.571A>T
NM_001047.4:c.316A>T MANE Select	NP_001038.1:p.Met106Leu
NM_001324322.2:c.320-4214A>T	NP_001311251.1:n.320-4214A>T
NM_001324323.2:c.97A>T	NP_001311252.1:p.Met33Leu
NR_136739.2:n.453A>T