Canonical Allele Identifier: CA415286971

Gene: NSDHL

Linked Data

• ClinVar Variation Id: 2250771
• ClinVar RCV Id: RCV002763093
• gnomAD v4: X-152867650-C-G
• MyVariant Identifiers: chrX:g.152036194C>G (hg19) ; chrX:g.152867650C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.152867650C>G , CM000685.2:g.152867650C>G	GRCh38
NC_000023.10:g.152036194C>G , CM000685.1:g.152036194C>G	GRCh37
NC_000023.9:g.151786850C>G	NCBI36
NG_009163.1:g.41684C>G
NG_009163.2:g.41684C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370274.8:c.766C>G MANE Select	ENSP00000359297.3:p.Arg256Gly
ENST00000370274.7:c.766C>G	ENSP00000359297.3:p.Arg256Gly
ENST00000440023.5:c.766C>G	ENSP00000391854.1:p.Arg256Gly
NM_001129765.1:c.766C>G	NP_001123237.1:p.Arg256Gly
NM_015922.2:c.766C>G	NP_057006.1:p.Arg256Gly
XM_011531178.1:c.766C>G	XP_011529480.1:p.Arg256Gly
XM_011531178.2:c.766C>G	XP_011529480.1:p.Arg256Gly
XM_017029564.1:c.814C>G	XP_016885053.1:p.Arg272Gly
NM_015922.3:c.766C>G MANE Select	NP_057006.1:p.Arg256Gly
NM_001129765.2:c.766C>G	NP_001123237.1:p.Arg256Gly