Canonical Allele Identifier: CA10544876

Gene: NSDHL

Linked Data

• dbSNP Id: rs782392133
• ExAC: X:152037451 C / T
• MyVariant Identifiers: chrX:g.152037451C>T (hg19) ; chrX:g.152868907C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.152868907C>T , CM000685.2:g.152868907C>T	GRCh38
NC_000023.10:g.152037451C>T , CM000685.1:g.152037451C>T	GRCh37
NC_000023.9:g.151788107C>T	NCBI36
NG_009163.1:g.42941C>T
NG_009163.2:g.42941C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370274.8:c.913C>T MANE Select	ENSP00000359297.3:p.Leu305Phe
ENST00000370274.7:c.913C>T	ENSP00000359297.3:p.Leu305Phe
ENST00000440023.5:c.913C>T	ENSP00000391854.1:p.Leu305Phe
NM_001129765.1:c.913C>T	NP_001123237.1:p.Leu305Phe
NM_015922.2:c.913C>T	NP_057006.1:p.Leu305Phe
XM_011531178.1:c.913C>T	XP_011529480.1:p.Leu305Phe
XM_011531178.2:c.913C>T	XP_011529480.1:p.Leu305Phe
XM_017029564.1:c.961C>T	XP_016885053.1:p.Leu321Phe
NM_015922.3:c.913C>T MANE Select	NP_057006.1:p.Leu305Phe
NM_001129765.2:c.913C>T	NP_001123237.1:p.Leu305Phe