Canonical Allele Identifier: CA388654905
Community Standard Title: NM_052867.4(NALCN):c.3059T>C (p.Val1020Ala)
Gene: NALCN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.101100887A>G , CM000675.2:g.101100887A>G GRCh38
NC_000013.10:g.101753238A>G , CM000675.1:g.101753238A>G GRCh37
NC_000013.9:g.100551239A>G NCBI36
NG_053176.1:g.321320T>C

Transcript Alleles

HGVS Amino-acid Change
NM_052867.4:c.3059T>C MANE Select NP_443099.1:p.Val1020Ala
ENST00000251127.11:c.3059T>C MANE Select ENSP00000251127.6:p.Val1020Ala
NM_001350748.1:c.3146T>C NP_001337677.1:p.Val1049Ala
NM_001350748.2:c.3146T>C NP_001337677.1:p.Val1049Ala
NM_001350749.1:c.3059T>C NP_001337678.1:p.Val1020Ala
NM_001350749.2:c.3059T>C NP_001337678.1:p.Val1020Ala
NM_001350750.1:c.2972T>C NP_001337679.1:p.Val991Ala
NM_001350750.2:c.2972T>C NP_001337679.1:p.Val991Ala
NM_001350751.1:c.2972T>C NP_001337680.1:p.Val991Ala
NM_001350751.2:c.2972T>C NP_001337680.1:p.Val991Ala
NM_052867.2:c.3059T>C NP_443099.1:p.Val1020Ala
NM_052867.3:c.3059T>C NP_443099.1:p.Val1020Ala
ENST00000251127.10:c.3059T>C ENSP00000251127.6:p.Val1020Ala
ENST00000648359.1:c.3059T>C ENSP00000497465.1:p.Val1020Ala
ENST00000675150.1:c.2780T>C ENSP00000502680.1:p.Val927Ala
ENST00000675332.1:c.3146T>C ENSP00000501955.1:p.Val1049Ala
ENST00000676315.1:c.2972T>C ENSP00000501603.1:p.Val991Ala
XM_011521067.1:c.3116T>C XP_011519369.1:p.Val1039Ala
XM_011521067.2:c.3116T>C XP_011519369.1:p.Val1039Ala
XM_011521068.1:c.3059T>C XP_011519370.1:p.Val1020Ala
XM_011521069.1:c.3029T>C XP_011519371.1:p.Val1010Ala
XM_011521069.2:c.3029T>C XP_011519371.1:p.Val1010Ala
XM_011521070.1:c.2837T>C XP_011519372.1:p.Val946Ala
XM_017020536.2:c.2612T>C XP_016876025.1:p.Val871Ala
XM_017020537.1:c.2294T>C XP_016876026.1:p.Val765Ala
XM_024449336.1:c.3203T>C XP_024305104.1:p.Val1068Ala