Canonical Allele Identifier: CA2694983108

Gene: NSDHL

Linked Data

• gnomAD v4: X-152862753-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.152862753C>T , CM000685.2:g.152862753C>T	GRCh38
NC_000023.10:g.152031297C>T , CM000685.1:g.152031297C>T	GRCh37
NC_000023.9:g.151781953C>T	NCBI36
NG_009163.1:g.36787C>T
NG_009163.2:g.36787C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370274.8:c.543+29C>T MANE Select	ENSP00000359297.3:n.543+29C>T
ENST00000370274.7:c.543+29C>T	ENSP00000359297.3:n.543+29C>T
ENST00000432467.1:c.543+29C>T	ENSP00000396266.1:n.543+29C>T
ENST00000440023.5:c.543+29C>T	ENSP00000391854.1:n.543+29C>T
NM_001129765.1:c.543+29C>T	NP_001123237.1:n.543+29C>T
NM_015922.2:c.543+29C>T	NP_057006.1:n.543+29C>T
XM_011531178.1:c.543+29C>T	XP_011529480.1:n.543+29C>T
XM_011531178.2:c.543+29C>T	XP_011529480.1:n.543+29C>T
XM_017029564.1:c.591+29C>T	XP_016885053.1:n.591+29C>T
NM_015922.3:c.543+29C>T MANE Select	NP_057006.1:n.543+29C>T
NM_001129765.2:c.543+29C>T	NP_001123237.1:n.543+29C>T