Canonical Allele Identifier: CA341814

Gene: NSDHL

Linked Data

• ClinVar Variation Id: 21265
• ClinVar RCV Id: RCV000020427 ; RCV002514124
• dbSNP Id: rs137853863
• MyVariant Identifiers: chrX:g.152037584A>G (hg19) ; chrX:g.152869040A>G (hg38)
• PubMed: PMID:21290788

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.152869040A>G , CM000685.2:g.152869040A>G	GRCh38
NC_000023.10:g.152037584A>G , CM000685.1:g.152037584A>G	GRCh37
NC_000023.9:g.151788240A>G	NCBI36
NG_009163.1:g.43074A>G
NG_009163.2:g.43074A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370274.8:c.1046A>G MANE Select	ENSP00000359297.3:p.Tyr349Cys
ENST00000370274.7:c.1046A>G	ENSP00000359297.3:p.Tyr349Cys
ENST00000440023.5:c.1046A>G	ENSP00000391854.1:p.Tyr349Cys
NM_001129765.1:c.1046A>G	NP_001123237.1:p.Tyr349Cys
NM_015922.2:c.1046A>G	NP_057006.1:p.Tyr349Cys
XM_011531178.1:c.1046A>G	XP_011529480.1:p.Tyr349Cys
XM_011531178.2:c.1046A>G	XP_011529480.1:p.Tyr349Cys
XM_017029564.1:c.1094A>G	XP_016885053.1:p.Tyr365Cys
NM_015922.3:c.1046A>G MANE Select	NP_057006.1:p.Tyr349Cys
NM_001129765.2:c.1046A>G	NP_001123237.1:p.Tyr349Cys