Canonical Allele Identifier: CA10544895

Gene: NSDHL

Linked Data

• dbSNP Id: rs782406401
• ExAC: X:152037581 G / T
• MyVariant Identifiers: chrX:g.152037581G>T (hg19) ; chrX:g.152869037G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.152869037G>T , CM000685.2:g.152869037G>T	GRCh38
NC_000023.10:g.152037581G>T , CM000685.1:g.152037581G>T	GRCh37
NC_000023.9:g.151788237G>T	NCBI36
NG_009163.1:g.43071G>T
NG_009163.2:g.43071G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370274.8:c.1043G>T MANE Select	ENSP00000359297.3:p.Gly348Val
ENST00000370274.7:c.1043G>T	ENSP00000359297.3:p.Gly348Val
ENST00000440023.5:c.1043G>T	ENSP00000391854.1:p.Gly348Val
NM_001129765.1:c.1043G>T	NP_001123237.1:p.Gly348Val
NM_015922.2:c.1043G>T	NP_057006.1:p.Gly348Val
XM_011531178.1:c.1043G>T	XP_011529480.1:p.Gly348Val
XM_011531178.2:c.1043G>T	XP_011529480.1:p.Gly348Val
XM_017029564.1:c.1091G>T	XP_016885053.1:p.Gly364Val
NM_015922.3:c.1043G>T MANE Select	NP_057006.1:p.Gly348Val
NM_001129765.2:c.1043G>T	NP_001123237.1:p.Gly348Val