Canonical Allele Identifier: CA399986532

Gene: NSF LRRC37A2

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.46704759G>A , CM000679.2:g.46704759G>A	GRCh38
NC_000017.10:g.44782125G>A , CM000679.1:g.44782125G>A	GRCh37
NC_000017.9:g.42137307G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_006178.4:c.1375G>A (NSF) MANE Select	NP_006169.2:p.Ala459Thr
ENST00000398238.8:c.1375G>A (NSF) MANE Select	ENSP00000381293.4:p.Ala459Thr
NM_006178.3:c.1375G>A (NSF)	NP_006169.2:p.Ala459Thr
NR_040116.1:n.1442G>A (NSF)
NR_040116.2:n.1442G>A (NSF)
ENST00000465370.2:c.1375G>A (NSF)	ENSP00000467779.2:p.Ala459Thr
ENST00000571864.6:c.*1089G>A (NSF)	ENSP00000461448.1:n.*1089G>A
ENST00000575068.5:c.1360G>A (NSF)	ENSP00000458221.1:p.Ala454Thr
ENST00000576040.6:c.1360G>A (NSF)	ENSP00000460152.2:p.Ala454Thr
ENST00000706373.1:c.1375G>A (NSF)	ENSP00000516356.1:p.Ala459Thr
ENST00000706374.1:n.1457G>A (NSF)
ENST00000706391.1:c.1375G>A (NSF)	ENSP00000516368.1:p.Ala459Thr
ENST00000706392.1:c.1375G>A (NSF)	ENSP00000516369.1:p.Ala459Thr
ENST00000706393.1:c.1375G>A (NSF)	ENSP00000516370.1:p.Ala459Thr
ENST00000706394.1:n.1431G>A (NSF)
ENST00000706395.1:c.1374+10097G>A (NSF)	ENSP00000516371.1:n.1374+10097G>A
ENST00000706396.1:c.1375G>A (NSF)	ENSP00000516372.1:p.Ala459Thr
ENST00000706397.1:c.1375G>A (NSF)	ENSP00000516373.1:p.Ala459Thr
ENST00000706398.1:c.1375G>A (NSF)	ENSP00000516374.1:p.Ala459Thr
ENST00000706399.1:c.1093G>A (NSF)	ENSP00000516375.1:p.Ala365Thr
ENST00000706400.1:c.1360G>A (NSF)	ENSP00000516376.1:p.Ala454Thr
ENST00000706401.1:c.*1118G>A (NSF)	ENSP00000516377.1:n.*1118G>A
ENST00000706403.1:n.697G>A (NSF)
ENST00000706404.1:n.603G>A (NSF)
ENST00000706405.1:n.546G>A (NSF)
XM_011524863.1:c.1375G>A (NSF)	XP_011523165.1:p.Ala459Thr
XM_024450773.1:c.4809+154240G>A (LRRC37A2)	XP_024306541.1:n.4809+154240G>A