Canonical Allele Identifier: CA388650351

Gene: NALCN

Linked Data

• MyVariant Identifiers: chr13:g.101733950G>T (hg19) ; chr13:g.101081599G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.101081599G>T , CM000675.2:g.101081599G>T	GRCh38
NC_000013.10:g.101733950G>T , CM000675.1:g.101733950G>T	GRCh37
NC_000013.9:g.100531951G>T	NCBI36
NG_053176.1:g.340608C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251127.11:c.3813C>A MANE Select	ENSP00000251127.6:p.Ser1271Arg
ENST00000648359.1:c.3813C>A	ENSP00000497465.1:p.Ser1271Arg
ENST00000675150.1:c.3534C>A	ENSP00000502680.1:p.Ser1178Arg
ENST00000675332.1:c.3900C>A	ENSP00000501955.1:p.Ser1300Arg
ENST00000676315.1:c.3726C>A	ENSP00000501603.1:p.Ser1242Arg
ENST00000251127.10:c.3813C>A	ENSP00000251127.6:p.Ser1271Arg
NM_052867.2:c.3813C>A	NP_443099.1:p.Ser1271Arg
XM_011521067.1:c.3870C>A	XP_011519369.1:p.Ser1290Arg
XM_011521068.1:c.3813C>A	XP_011519370.1:p.Ser1271Arg
XM_011521069.1:c.3783C>A	XP_011519371.1:p.Ser1261Arg
XM_011521070.1:c.3591C>A	XP_011519372.1:p.Ser1197Arg
NM_001350748.1:c.3900C>A	NP_001337677.1:p.Ser1300Arg
NM_001350749.1:c.3813C>A	NP_001337678.1:p.Ser1271Arg
NM_001350750.1:c.3726C>A	NP_001337679.1:p.Ser1242Arg
NM_001350751.1:c.3726C>A	NP_001337680.1:p.Ser1242Arg
NM_052867.3:c.3813C>A	NP_443099.1:p.Ser1271Arg
XM_011521067.2:c.3870C>A	XP_011519369.1:p.Ser1290Arg
XM_011521069.2:c.3783C>A	XP_011519371.1:p.Ser1261Arg
XM_017020536.2:c.3366C>A	XP_016876025.1:p.Ser1122Arg
XM_017020537.1:c.3048C>A	XP_016876026.1:p.Ser1016Arg
XM_024449336.1:c.3957C>A	XP_024305104.1:p.Ser1319Arg
NM_052867.4:c.3813C>A MANE Select	NP_443099.1:p.Ser1271Arg
NM_001350748.2:c.3900C>A	NP_001337677.1:p.Ser1300Arg
NM_001350749.2:c.3813C>A	NP_001337678.1:p.Ser1271Arg
NM_001350750.2:c.3726C>A	NP_001337679.1:p.Ser1242Arg
NM_001350751.2:c.3726C>A	NP_001337680.1:p.Ser1242Arg