Canonical Allele Identifier: CA10544773

Gene: NSDHL

Linked Data

• dbSNP Id: rs782635997
• ExAC: X:152031184 C / T
• gnomAD v2: X-152031184-C-T
• gnomAD v3: X-152862640-C-T
• gnomAD v4: X-152862640-C-T
• COSMIC: COSM262474
• MyVariant Identifiers: chrX:g.152031184C>T (hg19) ; chrX:g.152862640C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.152862640C>T , CM000685.2:g.152862640C>T	GRCh38
NC_000023.10:g.152031184C>T , CM000685.1:g.152031184C>T	GRCh37
NC_000023.9:g.151781840C>T	NCBI36
NG_009163.1:g.36674C>T
NG_009163.2:g.36674C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000370274.8:c.459C>T MANE Select	ENSP00000359297.3:p.Val153=
ENST00000370274.7:c.459C>T	ENSP00000359297.3:p.Val153=
ENST00000432467.1:c.459C>T	ENSP00000396266.1:p.Val153=
ENST00000440023.5:c.459C>T	ENSP00000391854.1:p.Val153=
NM_001129765.1:c.459C>T	NP_001123237.1:p.Val153=
NM_015922.2:c.459C>T	NP_057006.1:p.Val153=
XM_011531178.1:c.459C>T	XP_011529480.1:p.Val153=
XM_011531178.2:c.459C>T	XP_011529480.1:p.Val153=
XM_017029564.1:c.507C>T	XP_016885053.1:p.Val169=
NM_015922.3:c.459C>T MANE Select	NP_057006.1:p.Val153=
NM_001129765.2:c.459C>T	NP_001123237.1:p.Val153=