Canonical Allele Identifier: CA8620400
Gene: NSF HGNC NCBI
LRRC37A2 HGNC NCBI

Linked Data

dbSNP Id: rs199533

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.46751565G>A , CM000679.2:g.46751565G>A GRCh38
NC_000017.10:g.44828931G>A , CM000679.1:g.44828931G>A GRCh37
NC_000017.9:g.42184098G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000465370.2:c.2106G>A (NSF) ENSP00000467779.2:p.Lys702=
ENST00000571864.6:c.*1820G>A (NSF) ENSP00000461448.1:n.*1820G>A
ENST00000576040.6:c.2091G>A (NSF) ENSP00000460152.2:p.Lys697=
ENST00000576346.6:n.692G>A (NSF)
ENST00000706373.1:c.2106G>A (NSF) ENSP00000516356.1:p.Lys702=
ENST00000706374.1:n.2188G>A (NSF)
ENST00000706391.1:c.2106G>A (NSF) ENSP00000516368.1:p.Lys702=
ENST00000706392.1:c.2106G>A (NSF) ENSP00000516369.1:p.Lys702=
ENST00000706393.1:c.2106G>A (NSF) ENSP00000516370.1:p.Lys702=
ENST00000706395.1:c.1719G>A (NSF) ENSP00000516371.1:p.Lys573=
ENST00000706396.1:c.1815G>A (NSF) ENSP00000516372.1:p.Lys605=
ENST00000706397.1:c.*639G>A (NSF) ENSP00000516373.1:n.*639G>A
ENST00000706398.1:c.1668G>A (NSF) ENSP00000516374.1:p.Lys556=
ENST00000706399.1:c.1824G>A (NSF) ENSP00000516375.1:p.Lys608=
ENST00000706400.1:c.2091G>A (NSF) ENSP00000516376.1:p.Lys697=
ENST00000706401.1:c.*1849G>A (NSF) ENSP00000516377.1:n.*1849G>A
ENST00000706403.1:n.1428G>A (NSF)
ENST00000706405.1:n.1277G>A (NSF)
ENST00000398238.8:c.2106G>A (NSF) MANE Select ENSP00000381293.4:p.Lys702=
ENST00000465370.1:c.338G>A (NSF)
ENST00000575068.5:c.2091G>A (NSF) ENSP00000458221.1:p.Lys697=
ENST00000576346.5:c.390G>A (NSF) ENSP00000459646.1:p.Lys130=
NM_006178.3:c.2106G>A (NSF) NP_006169.2:p.Lys702=
NR_040116.1:n.2173G>A (NSF)
XM_011524863.1:c.2106G>A (NSF) XP_011523165.1:p.Lys702=
XM_024450773.1:c.4809+201046G>A (LRRC37A2) XP_024306541.1:n.4809+201046G>A
NM_006178.4:c.2106G>A (NSF) MANE Select NP_006169.2:p.Lys702=
NR_040116.2:n.2173G>A (NSF)