Canonical Allele Identifier: CA388703243
Community Standard Title: NM_052867.4(NALCN):c.1313G>A (p.Trp438Ter)
Gene: NALCN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.101237876C>T , CM000675.2:g.101237876C>T GRCh38
NC_000013.10:g.101890227C>T , CM000675.1:g.101890227C>T GRCh37
NC_000013.9:g.100688228C>T NCBI36
NG_053176.1:g.184331G>A

Transcript Alleles

HGVS Amino-acid Change
NM_052867.4:c.1313G>A MANE Select NP_443099.1:p.Trp438Ter
ENST00000251127.11:c.1313G>A MANE Select ENSP00000251127.6:p.Trp438Ter
NM_001350748.1:c.1313G>A NP_001337677.1:p.Trp438Ter
NM_001350748.2:c.1313G>A NP_001337677.1:p.Trp438Ter
NM_001350749.1:c.1313G>A NP_001337678.1:p.Trp438Ter
NM_001350749.2:c.1313G>A NP_001337678.1:p.Trp438Ter
NM_001350750.1:c.1226G>A NP_001337679.1:p.Trp409Ter
NM_001350750.2:c.1226G>A NP_001337679.1:p.Trp409Ter
NM_001350751.1:c.1226G>A NP_001337680.1:p.Trp409Ter
NM_001350751.2:c.1226G>A NP_001337680.1:p.Trp409Ter
NM_052867.2:c.1313G>A NP_443099.1:p.Trp438Ter
NM_052867.3:c.1313G>A NP_443099.1:p.Trp438Ter
ENST00000251127.10:c.1313G>A ENSP00000251127.6:p.Trp438Ter
ENST00000470333.1:n.1409G>A
ENST00000497170.5:n.1467G>A
ENST00000648359.1:c.1313G>A ENSP00000497465.1:p.Trp438Ter
ENST00000674840.1:n.1411G>A
ENST00000674904.1:n.1393G>A
ENST00000675150.1:c.1313G>A ENSP00000502680.1:p.Trp438Ter
ENST00000675332.1:c.1313G>A ENSP00000501955.1:p.Trp438Ter
ENST00000675594.1:c.*750G>A ENSP00000502490.1:n.*750G>A
ENST00000675802.1:c.1313G>A ENSP00000501818.1:p.Trp438Ter
ENST00000676315.1:c.1226G>A ENSP00000501603.1:p.Trp409Ter
ENST00000676439.1:n.1487G>A
XM_011521067.1:c.1370G>A XP_011519369.1:p.Trp457Ter
XM_011521067.2:c.1370G>A XP_011519369.1:p.Trp457Ter
XM_011521068.1:c.1313G>A XP_011519370.1:p.Trp438Ter
XM_011521069.1:c.1283G>A XP_011519371.1:p.Trp428Ter
XM_011521069.2:c.1283G>A XP_011519371.1:p.Trp428Ter
XM_011521070.1:c.1370G>A XP_011519372.1:p.Trp457Ter
XM_017020536.2:c.866G>A XP_016876025.1:p.Trp289Ter
XM_017020537.1:c.548G>A XP_016876026.1:p.Trp183Ter
XM_024449336.1:c.1370G>A XP_024305104.1:p.Trp457Ter