Canonical Allele Identifier: CA272342

Gene: NSDHL

Linked Data

• ClinVar Variation Id: 159453
• ClinVar RCV Id: RCV000146964 ; RCV000412977
• dbSNP Id: rs587784224
• MyVariant Identifiers: chrX:g.152036155G>A (hg19) ; chrX:g.152867611G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.152867611G>A , CM000685.2:g.152867611G>A	GRCh38
NC_000023.10:g.152036155G>A , CM000685.1:g.152036155G>A	GRCh37
NC_000023.9:g.151786811G>A	NCBI36
NG_009163.1:g.41645G>A
NG_009163.2:g.41645G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370274.8:c.727G>A MANE Select	ENSP00000359297.3:p.Val243Met
ENST00000370274.7:c.727G>A	ENSP00000359297.3:p.Val243Met
ENST00000432467.1:c.727G>A	ENSP00000396266.1:p.Val243Met
ENST00000440023.5:c.727G>A	ENSP00000391854.1:p.Val243Met
NM_001129765.1:c.727G>A	NP_001123237.1:p.Val243Met
NM_015922.2:c.727G>A	NP_057006.1:p.Val243Met
XM_011531178.1:c.727G>A	XP_011529480.1:p.Val243Met
XM_011531178.2:c.727G>A	XP_011529480.1:p.Val243Met
XM_017029564.1:c.775G>A	XP_016885053.1:p.Val259Met
NM_015922.3:c.727G>A MANE Select	NP_057006.1:p.Val243Met
NM_001129765.2:c.727G>A	NP_001123237.1:p.Val243Met