Canonical Allele Identifier: CA388671356

Gene: NALCN

Linked Data

• MyVariant Identifiers: chr13:g.101795455C>A (hg19) ; chr13:g.101143104C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.101143104C>A , CM000675.2:g.101143104C>A	GRCh38
NC_000013.10:g.101795455C>A , CM000675.1:g.101795455C>A	GRCh37
NC_000013.9:g.100593456C>A	NCBI36
NG_053176.1:g.279103G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000251127.11:c.2094G>T MANE Select	ENSP00000251127.6:p.Glu698Asp
ENST00000467264.2:c.286G>T
ENST00000648359.1:c.2094G>T	ENSP00000497465.1:p.Glu698Asp
ENST00000675150.1:c.1840-18423G>T	ENSP00000502680.1:n.1840-18423G>T
ENST00000675332.1:c.2094G>T	ENSP00000501955.1:p.Glu698Asp
ENST00000675802.1:c.2094G>T	ENSP00000501818.1:p.Glu698Asp
ENST00000676315.1:c.2007G>T	ENSP00000501603.1:p.Glu669Asp
ENST00000251127.10:c.2094G>T	ENSP00000251127.6:p.Glu698Asp
ENST00000467264.1:n.118G>T
ENST00000497170.5:n.2248G>T
NM_052867.2:c.2094G>T	NP_443099.1:p.Glu698Asp
XM_011521067.1:c.2151G>T	XP_011519369.1:p.Glu717Asp
XM_011521068.1:c.2094G>T	XP_011519370.1:p.Glu698Asp
XM_011521069.1:c.2064G>T	XP_011519371.1:p.Glu688Asp
XM_011521070.1:c.1897-18423G>T	XP_011519372.1:n.1897-18423G>T
NM_001350748.1:c.2094G>T	NP_001337677.1:p.Glu698Asp
NM_001350749.1:c.2094G>T	NP_001337678.1:p.Glu698Asp
NM_001350750.1:c.2007G>T	NP_001337679.1:p.Glu669Asp
NM_001350751.1:c.2007G>T	NP_001337680.1:p.Glu669Asp
NM_052867.3:c.2094G>T	NP_443099.1:p.Glu698Asp
XM_011521067.2:c.2151G>T	XP_011519369.1:p.Glu717Asp
XM_011521069.2:c.2064G>T	XP_011519371.1:p.Glu688Asp
XM_017020536.2:c.1647G>T	XP_016876025.1:p.Glu549Asp
XM_017020537.1:c.1329G>T	XP_016876026.1:p.Glu443Asp
XM_024449336.1:c.2151G>T	XP_024305104.1:p.Glu717Asp
NM_052867.4:c.2094G>T MANE Select	NP_443099.1:p.Glu698Asp
NM_001350748.2:c.2094G>T	NP_001337677.1:p.Glu698Asp
NM_001350749.2:c.2094G>T	NP_001337678.1:p.Glu698Asp
NM_001350750.2:c.2007G>T	NP_001337679.1:p.Glu669Asp
NM_001350751.2:c.2007G>T	NP_001337680.1:p.Glu669Asp