Canonical Allele Identifier: CA10544735

Gene: NSDHL

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.152850421C>G , CM000685.2:g.152850421C>G	GRCh38
NC_000023.10:g.152018965C>G , CM000685.1:g.152018965C>G	GRCh37
NC_000023.9:g.151769621C>G	NCBI36
NG_009163.1:g.24455C>G
NG_009163.2:g.24455C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_015922.3:c.265C>G MANE Select	NP_057006.1:p.Gln89Glu
ENST00000370274.8:c.265C>G MANE Select	ENSP00000359297.3:p.Gln89Glu
NM_001129765.1:c.265C>G	NP_001123237.1:p.Gln89Glu
NM_001129765.2:c.265C>G	NP_001123237.1:p.Gln89Glu
NM_015922.2:c.265C>G	NP_057006.1:p.Gln89Glu
ENST00000370274.7:c.265C>G	ENSP00000359297.3:p.Gln89Glu
ENST00000432467.1:c.265C>G	ENSP00000396266.1:p.Gln89Glu
ENST00000440023.5:c.265C>G	ENSP00000391854.1:p.Gln89Glu
XM_011531178.1:c.265C>G	XP_011529480.1:p.Gln89Glu
XM_011531178.2:c.265C>G	XP_011529480.1:p.Gln89Glu
XM_017029564.1:c.313C>G	XP_016885053.1:p.Gln105Glu