Canonical Allele Identifier: CA10544859

Gene: NSDHL

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.152868836G>T , CM000685.2:g.152868836G>T	GRCh38
NC_000023.10:g.152037380G>T , CM000685.1:g.152037380G>T	GRCh37
NC_000023.9:g.151788036G>T	NCBI36
NG_009163.1:g.42870G>T
NG_009163.2:g.42870G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_015922.3:c.842G>T MANE Select	NP_057006.1:p.Arg281Leu
ENST00000370274.8:c.842G>T MANE Select	ENSP00000359297.3:p.Arg281Leu
NM_001129765.1:c.842G>T	NP_001123237.1:p.Arg281Leu
NM_001129765.2:c.842G>T	NP_001123237.1:p.Arg281Leu
NM_015922.2:c.842G>T	NP_057006.1:p.Arg281Leu
ENST00000370274.7:c.842G>T	ENSP00000359297.3:p.Arg281Leu
ENST00000440023.5:c.842G>T	ENSP00000391854.1:p.Arg281Leu
XM_011531178.1:c.842G>T	XP_011529480.1:p.Arg281Leu
XM_011531178.2:c.842G>T	XP_011529480.1:p.Arg281Leu
XM_017029564.1:c.890G>T	XP_016885053.1:p.Arg297Leu