Canonical Allele Identifier: CA388650313

Gene: NALCN

Linked Data

• MyVariant Identifiers: chr13:g.101733940G>C (hg19) ; chr13:g.101081589G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.101081589G>C , CM000675.2:g.101081589G>C	GRCh38
NC_000013.10:g.101733940G>C , CM000675.1:g.101733940G>C	GRCh37
NC_000013.9:g.100531941G>C	NCBI36
NG_053176.1:g.340618C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251127.11:c.3823C>G MANE Select	ENSP00000251127.6:p.Arg1275Gly
ENST00000648359.1:c.3823C>G	ENSP00000497465.1:p.Arg1275Gly
ENST00000675150.1:c.3544C>G	ENSP00000502680.1:p.Arg1182Gly
ENST00000675332.1:c.3910C>G	ENSP00000501955.1:p.Arg1304Gly
ENST00000676315.1:c.3736C>G	ENSP00000501603.1:p.Arg1246Gly
ENST00000251127.10:c.3823C>G	ENSP00000251127.6:p.Arg1275Gly
NM_052867.2:c.3823C>G	NP_443099.1:p.Arg1275Gly
XM_011521067.1:c.3880C>G	XP_011519369.1:p.Arg1294Gly
XM_011521068.1:c.3823C>G	XP_011519370.1:p.Arg1275Gly
XM_011521069.1:c.3793C>G	XP_011519371.1:p.Arg1265Gly
XM_011521070.1:c.3601C>G	XP_011519372.1:p.Arg1201Gly
NM_001350748.1:c.3910C>G	NP_001337677.1:p.Arg1304Gly
NM_001350749.1:c.3823C>G	NP_001337678.1:p.Arg1275Gly
NM_001350750.1:c.3736C>G	NP_001337679.1:p.Arg1246Gly
NM_001350751.1:c.3736C>G	NP_001337680.1:p.Arg1246Gly
NM_052867.3:c.3823C>G	NP_443099.1:p.Arg1275Gly
XM_011521067.2:c.3880C>G	XP_011519369.1:p.Arg1294Gly
XM_011521069.2:c.3793C>G	XP_011519371.1:p.Arg1265Gly
XM_017020536.2:c.3376C>G	XP_016876025.1:p.Arg1126Gly
XM_017020537.1:c.3058C>G	XP_016876026.1:p.Arg1020Gly
XM_024449336.1:c.3967C>G	XP_024305104.1:p.Arg1323Gly
NM_052867.4:c.3823C>G MANE Select	NP_443099.1:p.Arg1275Gly
NM_001350748.2:c.3910C>G	NP_001337677.1:p.Arg1304Gly
NM_001350749.2:c.3823C>G	NP_001337678.1:p.Arg1275Gly
NM_001350750.2:c.3736C>G	NP_001337679.1:p.Arg1246Gly
NM_001350751.2:c.3736C>G	NP_001337680.1:p.Arg1246Gly