Canonical Allele Identifier: CA415286838

Gene: NSDHL

Linked Data

• MyVariant Identifiers: chrX:g.152036132T>G (hg19) ; chrX:g.152867588T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.152867588T>G , CM000685.2:g.152867588T>G	GRCh38
NC_000023.10:g.152036132T>G , CM000685.1:g.152036132T>G	GRCh37
NC_000023.9:g.151786788T>G	NCBI36
NG_009163.1:g.41622T>G
NG_009163.2:g.41622T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000370274.8:c.704T>G MANE Select	ENSP00000359297.3:p.Val235Gly
ENST00000370274.7:c.704T>G	ENSP00000359297.3:p.Val235Gly
ENST00000432467.1:c.704T>G	ENSP00000396266.1:p.Val235Gly
ENST00000440023.5:c.704T>G	ENSP00000391854.1:p.Val235Gly
NM_001129765.1:c.704T>G	NP_001123237.1:p.Val235Gly
NM_015922.2:c.704T>G	NP_057006.1:p.Val235Gly
XM_011531178.1:c.704T>G	XP_011529480.1:p.Val235Gly
XM_011531178.2:c.704T>G	XP_011529480.1:p.Val235Gly
XM_017029564.1:c.752T>G	XP_016885053.1:p.Val251Gly
NM_015922.3:c.704T>G MANE Select	NP_057006.1:p.Val235Gly
NM_001129765.2:c.704T>G	NP_001123237.1:p.Val235Gly