Canonical Allele Identifier: CA388705027

Gene: NALCN

Linked Data

• MyVariant Identifiers: chr13:g.101944643T>A (hg19) ; chr13:g.101292292T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.101292292T>A , CM000675.2:g.101292292T>A	GRCh38
NC_000013.10:g.101944643T>A , CM000675.1:g.101944643T>A	GRCh37
NC_000013.9:g.100742644T>A	NCBI36
NG_053176.1:g.129915A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251127.11:c.874A>T MANE Select	ENSP00000251127.6:p.Ser292Cys
ENST00000648359.1:c.874A>T	ENSP00000497465.1:p.Ser292Cys
ENST00000674840.1:n.972A>T
ENST00000674904.1:n.954A>T
ENST00000675075.1:n.476A>T
ENST00000675150.1:c.874A>T	ENSP00000502680.1:p.Ser292Cys
ENST00000675332.1:c.874A>T	ENSP00000501955.1:p.Ser292Cys
ENST00000675415.1:n.1057A>T
ENST00000675594.1:c.*311A>T	ENSP00000502490.1:n.*311A>T
ENST00000675802.1:c.874A>T	ENSP00000501818.1:p.Ser292Cys
ENST00000676315.1:c.874A>T	ENSP00000501603.1:p.Ser292Cys
ENST00000676439.1:n.1048A>T
ENST00000251127.10:c.874A>T	ENSP00000251127.6:p.Ser292Cys
ENST00000470333.1:n.970A>T
ENST00000497170.5:n.1028A>T
NM_052867.2:c.874A>T	NP_443099.1:p.Ser292Cys
XM_011521067.1:c.931A>T	XP_011519369.1:p.Ser311Cys
XM_011521068.1:c.874A>T	XP_011519370.1:p.Ser292Cys
XM_011521069.1:c.931A>T	XP_011519371.1:p.Ser311Cys
XM_011521070.1:c.931A>T	XP_011519372.1:p.Ser311Cys
NM_001350748.1:c.874A>T	NP_001337677.1:p.Ser292Cys
NM_001350749.1:c.874A>T	NP_001337678.1:p.Ser292Cys
NM_001350750.1:c.874A>T	NP_001337679.1:p.Ser292Cys
NM_001350751.1:c.874A>T	NP_001337680.1:p.Ser292Cys
NM_052867.3:c.874A>T	NP_443099.1:p.Ser292Cys
XM_011521067.2:c.931A>T	XP_011519369.1:p.Ser311Cys
XM_011521069.2:c.931A>T	XP_011519371.1:p.Ser311Cys
XM_017020536.2:c.427A>T	XP_016876025.1:p.Ser143Cys
XM_017020537.1:c.109A>T	XP_016876026.1:p.Ser37Cys
XM_024449336.1:c.931A>T	XP_024305104.1:p.Ser311Cys
NM_052867.4:c.874A>T MANE Select	NP_443099.1:p.Ser292Cys
NM_001350748.2:c.874A>T	NP_001337677.1:p.Ser292Cys
NM_001350749.2:c.874A>T	NP_001337678.1:p.Ser292Cys
NM_001350750.2:c.874A>T	NP_001337679.1:p.Ser292Cys
NM_001350751.2:c.874A>T	NP_001337680.1:p.Ser292Cys