Canonical Allele Identifier: CA388650328
Gene: NALCN HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.101081593T>A , CM000675.2:g.101081593T>A GRCh38
NC_000013.10:g.101733944T>A , CM000675.1:g.101733944T>A GRCh37
NC_000013.9:g.100531945T>A NCBI36
NG_053176.1:g.340614A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000251127.11:c.3819A>T MANE Select ENSP00000251127.6:p.Arg1273Ser
ENST00000648359.1:c.3819A>T ENSP00000497465.1:p.Arg1273Ser
ENST00000675150.1:c.3540A>T ENSP00000502680.1:p.Arg1180Ser
ENST00000675332.1:c.3906A>T ENSP00000501955.1:p.Arg1302Ser
ENST00000676315.1:c.3732A>T ENSP00000501603.1:p.Arg1244Ser
ENST00000251127.10:c.3819A>T ENSP00000251127.6:p.Arg1273Ser
NM_052867.2:c.3819A>T NP_443099.1:p.Arg1273Ser
XM_011521067.1:c.3876A>T XP_011519369.1:p.Arg1292Ser
XM_011521068.1:c.3819A>T XP_011519370.1:p.Arg1273Ser
XM_011521069.1:c.3789A>T XP_011519371.1:p.Arg1263Ser
XM_011521070.1:c.3597A>T XP_011519372.1:p.Arg1199Ser
NM_001350748.1:c.3906A>T NP_001337677.1:p.Arg1302Ser
NM_001350749.1:c.3819A>T NP_001337678.1:p.Arg1273Ser
NM_001350750.1:c.3732A>T NP_001337679.1:p.Arg1244Ser
NM_001350751.1:c.3732A>T NP_001337680.1:p.Arg1244Ser
NM_052867.3:c.3819A>T NP_443099.1:p.Arg1273Ser
XM_011521067.2:c.3876A>T XP_011519369.1:p.Arg1292Ser
XM_011521069.2:c.3789A>T XP_011519371.1:p.Arg1263Ser
XM_017020536.2:c.3372A>T XP_016876025.1:p.Arg1124Ser
XM_017020537.1:c.3054A>T XP_016876026.1:p.Arg1018Ser
XM_024449336.1:c.3963A>T XP_024305104.1:p.Arg1321Ser
NM_052867.4:c.3819A>T MANE Select NP_443099.1:p.Arg1273Ser
NM_001350748.2:c.3906A>T NP_001337677.1:p.Arg1302Ser
NM_001350749.2:c.3819A>T NP_001337678.1:p.Arg1273Ser
NM_001350750.2:c.3732A>T NP_001337679.1:p.Arg1244Ser
NM_001350751.2:c.3732A>T NP_001337680.1:p.Arg1244Ser