Canonical Allele Identifier: CA645215090

Gene: NSDHL

Linked Data

• dbSNP Id: rs1556847687
• gnomAD v2: X-152031563-C-G
• MyVariant Identifiers: chrX:g.152031563C>G (hg19) ; chrX:g.152863019C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.152863019C>G , CM000685.2:g.152863019C>G	GRCh38
NC_000023.10:g.152031563C>G , CM000685.1:g.152031563C>G	GRCh37
NC_000023.9:g.151782219C>G	NCBI36
NG_009163.1:g.37053C>G
NG_009163.2:g.37053C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370274.8:c.543+295C>G MANE Select	ENSP00000359297.3:n.543+295C>G
ENST00000370274.7:c.543+295C>G	ENSP00000359297.3:n.543+295C>G
ENST00000432467.1:c.543+295C>G	ENSP00000396266.1:n.543+295C>G
ENST00000440023.5:c.543+295C>G	ENSP00000391854.1:n.543+295C>G
NM_001129765.1:c.543+295C>G	NP_001123237.1:n.543+295C>G
NM_015922.2:c.543+295C>G	NP_057006.1:n.543+295C>G
XM_011531178.1:c.543+295C>G	XP_011529480.1:n.543+295C>G
XM_011531178.2:c.543+295C>G	XP_011529480.1:n.543+295C>G
XM_017029564.1:c.591+295C>G	XP_016885053.1:n.591+295C>G
NM_015922.3:c.543+295C>G MANE Select	NP_057006.1:n.543+295C>G
NM_001129765.2:c.543+295C>G	NP_001123237.1:n.543+295C>G