Canonical Allele Identifier: CA2114401763
Community Standard Title: NM_052867.4(NALCN):c.2203C= (p.Arg735=)
Gene: NALCN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.101111216G= , CM000675.2:g.101111216G= GRCh38
NC_000013.10:g.101763567G= , CM000675.1:g.101763567G= GRCh37
NC_000013.9:g.100561568G= NCBI36
NG_053176.1:g.310991C=

Transcript Alleles

HGVS Amino-acid Change
NM_052867.4:c.2203C= MANE Select NP_443099.1:p.Arg735=
ENST00000251127.11:c.2203C= MANE Select ENSP00000251127.6:p.Arg735=
NM_001350748.1:c.2290C= NP_001337677.1:p.Arg764=
NM_001350748.2:c.2290C= NP_001337677.1:p.Arg764=
NM_001350749.1:c.2203C= NP_001337678.1:p.Arg735=
NM_001350749.2:c.2203C= NP_001337678.1:p.Arg735=
NM_001350750.1:c.2116C= NP_001337679.1:p.Arg706=
NM_001350750.2:c.2116C= NP_001337679.1:p.Arg706=
NM_001350751.1:c.2116C= NP_001337680.1:p.Arg706=
NM_001350751.2:c.2116C= NP_001337680.1:p.Arg706=
NM_052867.2:c.2203C= NP_443099.1:p.Arg735=
NM_052867.3:c.2203C= NP_443099.1:p.Arg735=
ENST00000251127.10:c.2203C= ENSP00000251127.6:p.Arg735=
ENST00000648359.1:c.2203C= ENSP00000497465.1:p.Arg735=
ENST00000675150.1:c.1924C= ENSP00000502680.1:p.Arg642=
ENST00000675332.1:c.2290C= ENSP00000501955.1:p.Arg764=
ENST00000676315.1:c.2116C= ENSP00000501603.1:p.Arg706=
XM_011521067.1:c.2260C= XP_011519369.1:p.Arg754=
XM_011521067.2:c.2260C= XP_011519369.1:p.Arg754=
XM_011521068.1:c.2203C= XP_011519370.1:p.Arg735=
XM_011521069.1:c.2173C= XP_011519371.1:p.Arg725=
XM_011521069.2:c.2173C= XP_011519371.1:p.Arg725=
XM_011521070.1:c.1981C= XP_011519372.1:p.Arg661=
XM_017020536.2:c.1756C= XP_016876025.1:p.Arg586=
XM_017020537.1:c.1438C= XP_016876026.1:p.Arg480=
XM_024449336.1:c.2347C= XP_024305104.1:p.Arg783=