Canonical Allele Identifier: CA388644554

Gene: NALCN

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.101062069C>T , CM000675.2:g.101062069C>T	GRCh38
NC_000013.10:g.101714421C>T , CM000675.1:g.101714421C>T	GRCh37
NC_000013.9:g.100512422C>T	NCBI36
NG_053176.1:g.360138G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_052867.4:c.4654G>A MANE Select	NP_443099.1:p.Glu1552Lys
ENST00000251127.11:c.4654G>A MANE Select	ENSP00000251127.6:p.Glu1552Lys
NM_001350748.1:c.4741G>A	NP_001337677.1:p.Glu1581Lys
NM_001350748.2:c.4741G>A	NP_001337677.1:p.Glu1581Lys
NM_001350749.1:c.4654G>A	NP_001337678.1:p.Glu1552Lys
NM_001350749.2:c.4654G>A	NP_001337678.1:p.Glu1552Lys
NM_001350750.1:c.4567G>A	NP_001337679.1:p.Glu1523Lys
NM_001350750.2:c.4567G>A	NP_001337679.1:p.Glu1523Lys
NM_001350751.1:c.4567G>A	NP_001337680.1:p.Glu1523Lys
NM_001350751.2:c.4567G>A	NP_001337680.1:p.Glu1523Lys
NM_052867.2:c.4654G>A	NP_443099.1:p.Glu1552Lys
NM_052867.3:c.4654G>A	NP_443099.1:p.Glu1552Lys
ENST00000251127.10:c.4654G>A	ENSP00000251127.6:p.Glu1552Lys
ENST00000648359.1:c.*274G>A	ENSP00000497465.1:n.*274G>A
ENST00000675150.1:c.4375G>A	ENSP00000502680.1:p.Glu1459Lys
ENST00000675332.1:c.4741G>A	ENSP00000501955.1:p.Glu1581Lys
ENST00000676315.1:c.4567G>A	ENSP00000501603.1:p.Glu1523Lys
XM_011521067.1:c.4711G>A	XP_011519369.1:p.Glu1571Lys
XM_011521067.2:c.4711G>A	XP_011519369.1:p.Glu1571Lys
XM_011521068.1:c.4654G>A	XP_011519370.1:p.Glu1552Lys
XM_011521069.1:c.4624G>A	XP_011519371.1:p.Glu1542Lys
XM_011521069.2:c.4624G>A	XP_011519371.1:p.Glu1542Lys
XM_011521070.1:c.4432G>A	XP_011519372.1:p.Glu1478Lys
XM_017020536.2:c.4207G>A	XP_016876025.1:p.Glu1403Lys
XM_017020537.1:c.3889G>A	XP_016876026.1:p.Glu1297Lys
XM_024449336.1:c.4798G>A	XP_024305104.1:p.Glu1600Lys