Canonical Allele Identifier: CA2466154409

Gene: NSDHL

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.152868912G= , CM000685.2:g.152868912G=	GRCh38
NC_000023.10:g.152037456G= , CM000685.1:g.152037456G=	GRCh37
NC_000023.9:g.151788112G=	NCBI36
NG_009163.1:g.42946G=
NG_009163.2:g.42946G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370274.8:c.918G= MANE Select	ENSP00000359297.3:p.Leu306=
ENST00000370274.7:c.918G=	ENSP00000359297.3:p.Leu306=
ENST00000440023.5:c.918G=	ENSP00000391854.1:p.Leu306=
NM_001129765.1:c.918G=	NP_001123237.1:p.Leu306=
NM_015922.2:c.918G=	NP_057006.1:p.Leu306=
XM_011531178.1:c.918G=	XP_011529480.1:p.Leu306=
XM_011531178.2:c.918G=	XP_011529480.1:p.Leu306=
XM_017029564.1:c.966G=	XP_016885053.1:p.Leu322=
NM_015922.3:c.918G= MANE Select	NP_057006.1:p.Leu306=
NM_001129765.2:c.918G=	NP_001123237.1:p.Leu306=