Canonical Allele Identifier: CA272349

Gene: NSDHL

Linked Data

• ClinVar Variation Id: 159457
• ClinVar RCV Id: RCV000146968
• dbSNP Id: rs587784226
• MyVariant Identifiers: chrX:g.152037444C>A (hg19) ; chrX:g.152868900C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.152868900C>A , CM000685.2:g.152868900C>A	GRCh38
NC_000023.10:g.152037444C>A , CM000685.1:g.152037444C>A	GRCh37
NC_000023.9:g.151788100C>A	NCBI36
NG_009163.1:g.42934C>A
NG_009163.2:g.42934C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370274.8:c.906C>A MANE Select	ENSP00000359297.3:p.Tyr302Ter
ENST00000370274.7:c.906C>A	ENSP00000359297.3:p.Tyr302Ter
ENST00000440023.5:c.906C>A	ENSP00000391854.1:p.Tyr302Ter
NM_001129765.1:c.906C>A	NP_001123237.1:p.Tyr302Ter
NM_015922.2:c.906C>A	NP_057006.1:p.Tyr302Ter
XM_011531178.1:c.906C>A	XP_011529480.1:p.Tyr302Ter
XM_011531178.2:c.906C>A	XP_011529480.1:p.Tyr302Ter
XM_017029564.1:c.954C>A	XP_016885053.1:p.Tyr318Ter
NM_015922.3:c.906C>A MANE Select	NP_057006.1:p.Tyr302Ter
NM_001129765.2:c.906C>A	NP_001123237.1:p.Tyr302Ter