Canonical Allele Identifier: CA246761

Gene: NSDHL

Linked Data

• ClinVar Variation Id: 159452
• ClinVar RCV Id: RCV000146963 ; RCV000179494
• dbSNP Id: rs587784223
• MyVariant Identifiers: chrX:g.152034414C>T (hg19) ; chrX:g.152865870C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.152865870C>T , CM000685.2:g.152865870C>T	GRCh38
NC_000023.10:g.152034414C>T , CM000685.1:g.152034414C>T	GRCh37
NC_000023.9:g.151785070C>T	NCBI36
NG_009163.1:g.39904C>T
NG_009163.2:g.39904C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370274.8:c.595C>T MANE Select	ENSP00000359297.3:p.Arg199Cys
ENST00000370274.7:c.595C>T	ENSP00000359297.3:p.Arg199Cys
ENST00000432467.1:c.595C>T	ENSP00000396266.1:p.Arg199Cys
ENST00000440023.5:c.595C>T	ENSP00000391854.1:p.Arg199Cys
NM_001129765.1:c.595C>T	NP_001123237.1:p.Arg199Cys
NM_015922.2:c.595C>T	NP_057006.1:p.Arg199Cys
XM_011531178.1:c.595C>T	XP_011529480.1:p.Arg199Cys
XM_011531178.2:c.595C>T	XP_011529480.1:p.Arg199Cys
XM_017029564.1:c.643C>T	XP_016885053.1:p.Arg215Cys
NM_015922.3:c.595C>T MANE Select	NP_057006.1:p.Arg199Cys
NM_001129765.2:c.595C>T	NP_001123237.1:p.Arg199Cys