Canonical Allele Identifier: CA388650480

Gene: NALCN

Linked Data

• MyVariant Identifiers: chr13:g.101733987T>G (hg19) ; chr13:g.101081636T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.101081636T>G , CM000675.2:g.101081636T>G	GRCh38
NC_000013.10:g.101733987T>G , CM000675.1:g.101733987T>G	GRCh37
NC_000013.9:g.100531988T>G	NCBI36
NG_053176.1:g.340571A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251127.11:c.3776A>C MANE Select	ENSP00000251127.6:p.Lys1259Thr
ENST00000648359.1:c.3776A>C	ENSP00000497465.1:p.Lys1259Thr
ENST00000675150.1:c.3497A>C	ENSP00000502680.1:p.Lys1166Thr
ENST00000675332.1:c.3863A>C	ENSP00000501955.1:p.Lys1288Thr
ENST00000676315.1:c.3689A>C	ENSP00000501603.1:p.Lys1230Thr
ENST00000251127.10:c.3776A>C	ENSP00000251127.6:p.Lys1259Thr
NM_052867.2:c.3776A>C	NP_443099.1:p.Lys1259Thr
XM_011521067.1:c.3833A>C	XP_011519369.1:p.Lys1278Thr
XM_011521068.1:c.3776A>C	XP_011519370.1:p.Lys1259Thr
XM_011521069.1:c.3746A>C	XP_011519371.1:p.Lys1249Thr
XM_011521070.1:c.3554A>C	XP_011519372.1:p.Lys1185Thr
NM_001350748.1:c.3863A>C	NP_001337677.1:p.Lys1288Thr
NM_001350749.1:c.3776A>C	NP_001337678.1:p.Lys1259Thr
NM_001350750.1:c.3689A>C	NP_001337679.1:p.Lys1230Thr
NM_001350751.1:c.3689A>C	NP_001337680.1:p.Lys1230Thr
NM_052867.3:c.3776A>C	NP_443099.1:p.Lys1259Thr
XM_011521067.2:c.3833A>C	XP_011519369.1:p.Lys1278Thr
XM_011521069.2:c.3746A>C	XP_011519371.1:p.Lys1249Thr
XM_017020536.2:c.3329A>C	XP_016876025.1:p.Lys1110Thr
XM_017020537.1:c.3011A>C	XP_016876026.1:p.Lys1004Thr
XM_024449336.1:c.3920A>C	XP_024305104.1:p.Lys1307Thr
NM_052867.4:c.3776A>C MANE Select	NP_443099.1:p.Lys1259Thr
NM_001350748.2:c.3863A>C	NP_001337677.1:p.Lys1288Thr
NM_001350749.2:c.3776A>C	NP_001337678.1:p.Lys1259Thr
NM_001350750.2:c.3689A>C	NP_001337679.1:p.Lys1230Thr
NM_001350751.2:c.3689A>C	NP_001337680.1:p.Lys1230Thr