Canonical Allele Identifier: CA388650445
Gene: NALCN HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.101081627G>T , CM000675.2:g.101081627G>T GRCh38
NC_000013.10:g.101733978G>T , CM000675.1:g.101733978G>T GRCh37
NC_000013.9:g.100531979G>T NCBI36
NG_053176.1:g.340580C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000251127.11:c.3785C>A MANE Select ENSP00000251127.6:p.Ala1262Glu
ENST00000648359.1:c.3785C>A ENSP00000497465.1:p.Ala1262Glu
ENST00000675150.1:c.3506C>A ENSP00000502680.1:p.Ala1169Glu
ENST00000675332.1:c.3872C>A ENSP00000501955.1:p.Ala1291Glu
ENST00000676315.1:c.3698C>A ENSP00000501603.1:p.Ala1233Glu
ENST00000251127.10:c.3785C>A ENSP00000251127.6:p.Ala1262Glu
NM_052867.2:c.3785C>A NP_443099.1:p.Ala1262Glu
XM_011521067.1:c.3842C>A XP_011519369.1:p.Ala1281Glu
XM_011521068.1:c.3785C>A XP_011519370.1:p.Ala1262Glu
XM_011521069.1:c.3755C>A XP_011519371.1:p.Ala1252Glu
XM_011521070.1:c.3563C>A XP_011519372.1:p.Ala1188Glu
NM_001350748.1:c.3872C>A NP_001337677.1:p.Ala1291Glu
NM_001350749.1:c.3785C>A NP_001337678.1:p.Ala1262Glu
NM_001350750.1:c.3698C>A NP_001337679.1:p.Ala1233Glu
NM_001350751.1:c.3698C>A NP_001337680.1:p.Ala1233Glu
NM_052867.3:c.3785C>A NP_443099.1:p.Ala1262Glu
XM_011521067.2:c.3842C>A XP_011519369.1:p.Ala1281Glu
XM_011521069.2:c.3755C>A XP_011519371.1:p.Ala1252Glu
XM_017020536.2:c.3338C>A XP_016876025.1:p.Ala1113Glu
XM_017020537.1:c.3020C>A XP_016876026.1:p.Ala1007Glu
XM_024449336.1:c.3929C>A XP_024305104.1:p.Ala1310Glu
NM_052867.4:c.3785C>A MANE Select NP_443099.1:p.Ala1262Glu
NM_001350748.2:c.3872C>A NP_001337677.1:p.Ala1291Glu
NM_001350749.2:c.3785C>A NP_001337678.1:p.Ala1262Glu
NM_001350750.2:c.3698C>A NP_001337679.1:p.Ala1233Glu
NM_001350751.2:c.3698C>A NP_001337680.1:p.Ala1233Glu