Canonical Allele Identifier: CA337612331

Gene: NSDHL

Linked Data

• dbSNP Id: rs1034610164
• gnomAD v2: X-152031181-C-T
• gnomAD v3: X-152862637-C-T
• gnomAD v4: X-152862637-C-T
• COSMIC: COSM1117187
• MyVariant Identifiers: chrX:g.152031181C>T (hg19) ; chrX:g.152862637C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.152862637C>T , CM000685.2:g.152862637C>T	GRCh38
NC_000023.10:g.152031181C>T , CM000685.1:g.152031181C>T	GRCh37
NC_000023.9:g.151781837C>T	NCBI36
NG_009163.1:g.36671C>T
NG_009163.2:g.36671C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000370274.8:c.456C>T MANE Select	ENSP00000359297.3:p.Gly152=
ENST00000370274.7:c.456C>T	ENSP00000359297.3:p.Gly152=
ENST00000432467.1:c.456C>T	ENSP00000396266.1:p.Gly152=
ENST00000440023.5:c.456C>T	ENSP00000391854.1:p.Gly152=
NM_001129765.1:c.456C>T	NP_001123237.1:p.Gly152=
NM_015922.2:c.456C>T	NP_057006.1:p.Gly152=
XM_011531178.1:c.456C>T	XP_011529480.1:p.Gly152=
XM_011531178.2:c.456C>T	XP_011529480.1:p.Gly152=
XM_017029564.1:c.504C>T	XP_016885053.1:p.Gly168=
NM_015922.3:c.456C>T MANE Select	NP_057006.1:p.Gly152=
NM_001129765.2:c.456C>T	NP_001123237.1:p.Gly152=