Canonical Allele Identifier: CA388650251

Gene: NALCN

Linked Data

• MyVariant Identifiers: chr13:g.101733919A>T (hg19) ; chr13:g.101081568A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.101081568A>T , CM000675.2:g.101081568A>T	GRCh38
NC_000013.10:g.101733919A>T , CM000675.1:g.101733919A>T	GRCh37
NC_000013.9:g.100531920A>T	NCBI36
NG_053176.1:g.340639T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251127.11:c.3844T>A MANE Select	ENSP00000251127.6:p.Ser1282Thr
ENST00000648359.1:c.3844T>A	ENSP00000497465.1:p.Ser1282Thr
ENST00000675150.1:c.3565T>A	ENSP00000502680.1:p.Ser1189Thr
ENST00000675332.1:c.3931T>A	ENSP00000501955.1:p.Ser1311Thr
ENST00000676315.1:c.3757T>A	ENSP00000501603.1:p.Ser1253Thr
ENST00000251127.10:c.3844T>A	ENSP00000251127.6:p.Ser1282Thr
NM_052867.2:c.3844T>A	NP_443099.1:p.Ser1282Thr
XM_011521067.1:c.3901T>A	XP_011519369.1:p.Ser1301Thr
XM_011521068.1:c.3844T>A	XP_011519370.1:p.Ser1282Thr
XM_011521069.1:c.3814T>A	XP_011519371.1:p.Ser1272Thr
XM_011521070.1:c.3622T>A	XP_011519372.1:p.Ser1208Thr
NM_001350748.1:c.3931T>A	NP_001337677.1:p.Ser1311Thr
NM_001350749.1:c.3844T>A	NP_001337678.1:p.Ser1282Thr
NM_001350750.1:c.3757T>A	NP_001337679.1:p.Ser1253Thr
NM_001350751.1:c.3757T>A	NP_001337680.1:p.Ser1253Thr
NM_052867.3:c.3844T>A	NP_443099.1:p.Ser1282Thr
XM_011521067.2:c.3901T>A	XP_011519369.1:p.Ser1301Thr
XM_011521069.2:c.3814T>A	XP_011519371.1:p.Ser1272Thr
XM_017020536.2:c.3397T>A	XP_016876025.1:p.Ser1133Thr
XM_017020537.1:c.3079T>A	XP_016876026.1:p.Ser1027Thr
XM_024449336.1:c.3988T>A	XP_024305104.1:p.Ser1330Thr
NM_052867.4:c.3844T>A MANE Select	NP_443099.1:p.Ser1282Thr
NM_001350748.2:c.3931T>A	NP_001337677.1:p.Ser1311Thr
NM_001350749.2:c.3844T>A	NP_001337678.1:p.Ser1282Thr
NM_001350750.2:c.3757T>A	NP_001337679.1:p.Ser1253Thr
NM_001350751.2:c.3757T>A	NP_001337680.1:p.Ser1253Thr