Canonical Allele Identifier: CA415287486

Gene: NSDHL

Linked Data

• MyVariant Identifiers: chrX:g.152037545A>C (hg19) ; chrX:g.152869001A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.152869001A>C , CM000685.2:g.152869001A>C	GRCh38
NC_000023.10:g.152037545A>C , CM000685.1:g.152037545A>C	GRCh37
NC_000023.9:g.151788201A>C	NCBI36
NG_009163.1:g.43035A>C
NG_009163.2:g.43035A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000370274.8:c.1007A>C MANE Select	ENSP00000359297.3:p.His336Pro
ENST00000370274.7:c.1007A>C	ENSP00000359297.3:p.His336Pro
ENST00000440023.5:c.1007A>C	ENSP00000391854.1:p.His336Pro
NM_001129765.1:c.1007A>C	NP_001123237.1:p.His336Pro
NM_015922.2:c.1007A>C	NP_057006.1:p.His336Pro
XM_011531178.1:c.1007A>C	XP_011529480.1:p.His336Pro
XM_011531178.2:c.1007A>C	XP_011529480.1:p.His336Pro
XM_017029564.1:c.1055A>C	XP_016885053.1:p.His352Pro
NM_015922.3:c.1007A>C MANE Select	NP_057006.1:p.His336Pro
NM_001129765.2:c.1007A>C	NP_001123237.1:p.His336Pro