Canonical Allele Identifier: CA415286849

Gene: NSDHL

Linked Data

• gnomAD v4: X-152867593-T-C
• MyVariant Identifiers: chrX:g.152036137T>C (hg19) ; chrX:g.152867593T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.152867593T>C , CM000685.2:g.152867593T>C	GRCh38
NC_000023.10:g.152036137T>C , CM000685.1:g.152036137T>C	GRCh37
NC_000023.9:g.151786793T>C	NCBI36
NG_009163.1:g.41627T>C
NG_009163.2:g.41627T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000370274.8:c.709T>C MANE Select	ENSP00000359297.3:p.Phe237Leu
ENST00000370274.7:c.709T>C	ENSP00000359297.3:p.Phe237Leu
ENST00000432467.1:c.709T>C	ENSP00000396266.1:p.Phe237Leu
ENST00000440023.5:c.709T>C	ENSP00000391854.1:p.Phe237Leu
NM_001129765.1:c.709T>C	NP_001123237.1:p.Phe237Leu
NM_015922.2:c.709T>C	NP_057006.1:p.Phe237Leu
XM_011531178.1:c.709T>C	XP_011529480.1:p.Phe237Leu
XM_011531178.2:c.709T>C	XP_011529480.1:p.Phe237Leu
XM_017029564.1:c.757T>C	XP_016885053.1:p.Phe253Leu
NM_015922.3:c.709T>C MANE Select	NP_057006.1:p.Phe237Leu
NM_001129765.2:c.709T>C	NP_001123237.1:p.Phe237Leu