Canonical Allele Identifier: CA2824241888

Gene: NSDHL

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.152862849G>T , CM000685.2:g.152862849G>T	GRCh38
NC_000023.10:g.152031393G>T , CM000685.1:g.152031393G>T	GRCh37
NC_000023.9:g.151782049G>T	NCBI36
NG_009163.1:g.36883G>T
NG_009163.2:g.36883G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370274.8:c.543+125G>T MANE Select	ENSP00000359297.3:n.543+125G>T
ENST00000370274.7:c.543+125G>T	ENSP00000359297.3:n.543+125G>T
ENST00000432467.1:c.543+125G>T	ENSP00000396266.1:n.543+125G>T
ENST00000440023.5:c.543+125G>T	ENSP00000391854.1:n.543+125G>T
NM_001129765.1:c.543+125G>T	NP_001123237.1:n.543+125G>T
NM_015922.2:c.543+125G>T	NP_057006.1:n.543+125G>T
XM_011531178.1:c.543+125G>T	XP_011529480.1:n.543+125G>T
XM_011531178.2:c.543+125G>T	XP_011529480.1:n.543+125G>T
XM_017029564.1:c.591+125G>T	XP_016885053.1:n.591+125G>T
NM_015922.3:c.543+125G>T MANE Select	NP_057006.1:n.543+125G>T
NM_001129765.2:c.543+125G>T	NP_001123237.1:n.543+125G>T