Canonical Allele Identifier: CA415287480

Gene: NSDHL

Linked Data

• MyVariant Identifiers: chrX:g.152037542T>C (hg19) ; chrX:g.152868998T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.152868998T>C , CM000685.2:g.152868998T>C	GRCh38
NC_000023.10:g.152037542T>C , CM000685.1:g.152037542T>C	GRCh37
NC_000023.9:g.151788198T>C	NCBI36
NG_009163.1:g.43032T>C
NG_009163.2:g.43032T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000370274.8:c.1004T>C MANE Select	ENSP00000359297.3:p.Phe335Ser
ENST00000370274.7:c.1004T>C	ENSP00000359297.3:p.Phe335Ser
ENST00000440023.5:c.1004T>C	ENSP00000391854.1:p.Phe335Ser
NM_001129765.1:c.1004T>C	NP_001123237.1:p.Phe335Ser
NM_015922.2:c.1004T>C	NP_057006.1:p.Phe335Ser
XM_011531178.1:c.1004T>C	XP_011529480.1:p.Phe335Ser
XM_011531178.2:c.1004T>C	XP_011529480.1:p.Phe335Ser
XM_017029564.1:c.1052T>C	XP_016885053.1:p.Phe351Ser
NM_015922.3:c.1004T>C MANE Select	NP_057006.1:p.Phe335Ser
NM_001129765.2:c.1004T>C	NP_001123237.1:p.Phe335Ser