Canonical Allele Identifier: CA388704775
Gene: NALCN HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.101292057T>G , CM000675.2:g.101292057T>G GRCh38
NC_000013.10:g.101944408T>G , CM000675.1:g.101944408T>G GRCh37
NC_000013.9:g.100742409T>G NCBI36
NG_053176.1:g.130150A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000251127.11:c.980A>C MANE Select ENSP00000251127.6:p.Glu327Ala
ENST00000648359.1:c.980A>C ENSP00000497465.1:p.Glu327Ala
ENST00000674840.1:n.1078A>C
ENST00000674904.1:n.1060A>C
ENST00000675150.1:c.980A>C ENSP00000502680.1:p.Glu327Ala
ENST00000675332.1:c.980A>C ENSP00000501955.1:p.Glu327Ala
ENST00000675415.1:n.1163A>C
ENST00000675594.1:c.*417A>C ENSP00000502490.1:n.*417A>C
ENST00000675802.1:c.980A>C ENSP00000501818.1:p.Glu327Ala
ENST00000676315.1:c.980A>C ENSP00000501603.1:p.Glu327Ala
ENST00000676439.1:n.1154A>C
ENST00000251127.10:c.980A>C ENSP00000251127.6:p.Glu327Ala
ENST00000470333.1:n.1076A>C
ENST00000497170.5:n.1134A>C
NM_052867.2:c.980A>C NP_443099.1:p.Glu327Ala
XM_011521067.1:c.1037A>C XP_011519369.1:p.Glu346Ala
XM_011521068.1:c.980A>C XP_011519370.1:p.Glu327Ala
XM_011521069.1:c.1037A>C XP_011519371.1:p.Glu346Ala
XM_011521070.1:c.1037A>C XP_011519372.1:p.Glu346Ala
NM_001350748.1:c.980A>C NP_001337677.1:p.Glu327Ala
NM_001350749.1:c.980A>C NP_001337678.1:p.Glu327Ala
NM_001350750.1:c.980A>C NP_001337679.1:p.Glu327Ala
NM_001350751.1:c.980A>C NP_001337680.1:p.Glu327Ala
NM_052867.3:c.980A>C NP_443099.1:p.Glu327Ala
XM_011521067.2:c.1037A>C XP_011519369.1:p.Glu346Ala
XM_011521069.2:c.1037A>C XP_011519371.1:p.Glu346Ala
XM_017020536.2:c.533A>C XP_016876025.1:p.Glu178Ala
XM_017020537.1:c.215A>C XP_016876026.1:p.Glu72Ala
XM_024449336.1:c.1037A>C XP_024305104.1:p.Glu346Ala
NM_052867.4:c.980A>C MANE Select NP_443099.1:p.Glu327Ala
NM_001350748.2:c.980A>C NP_001337677.1:p.Glu327Ala
NM_001350749.2:c.980A>C NP_001337678.1:p.Glu327Ala
NM_001350750.2:c.980A>C NP_001337679.1:p.Glu327Ala
NM_001350751.2:c.980A>C NP_001337680.1:p.Glu327Ala