Canonical Allele Identifier: CA388702937
Gene: NALCN HGNC NCBI
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.101176363A>T , CM000675.2:g.101176363A>T GRCh38
NC_000013.10:g.101828714A>T , CM000675.1:g.101828714A>T GRCh37
NC_000013.9:g.100626715A>T NCBI36
NG_053176.1:g.245844T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000251127.11:c.1776T>A MANE Select ENSP00000251127.6:p.Ser592Arg
ENST00000648359.1:c.1776T>A ENSP00000497465.1:p.Ser592Arg
ENST00000674840.1:n.1874T>A
ENST00000675150.1:c.1776T>A ENSP00000502680.1:p.Ser592Arg
ENST00000675332.1:c.1776T>A ENSP00000501955.1:p.Ser592Arg
ENST00000675802.1:c.1776T>A ENSP00000501818.1:p.Ser592Arg
ENST00000675891.1:n.616T>A
ENST00000676315.1:c.1689T>A ENSP00000501603.1:p.Ser563Arg
ENST00000676439.1:n.1950T>A
ENST00000251127.10:c.1776T>A ENSP00000251127.6:p.Ser592Arg
ENST00000497170.5:n.1930T>A
NM_052867.2:c.1776T>A NP_443099.1:p.Ser592Arg
XM_011521067.1:c.1833T>A XP_011519369.1:p.Ser611Arg
XM_011521068.1:c.1776T>A XP_011519370.1:p.Ser592Arg
XM_011521069.1:c.1746T>A XP_011519371.1:p.Ser582Arg
XM_011521070.1:c.1833T>A XP_011519372.1:p.Ser611Arg
NM_001350748.1:c.1776T>A NP_001337677.1:p.Ser592Arg
NM_001350749.1:c.1776T>A NP_001337678.1:p.Ser592Arg
NM_001350750.1:c.1689T>A NP_001337679.1:p.Ser563Arg
NM_001350751.1:c.1689T>A NP_001337680.1:p.Ser563Arg
NM_052867.3:c.1776T>A NP_443099.1:p.Ser592Arg
XM_011521067.2:c.1833T>A XP_011519369.1:p.Ser611Arg
XM_011521069.2:c.1746T>A XP_011519371.1:p.Ser582Arg
XM_017020536.2:c.1329T>A XP_016876025.1:p.Ser443Arg
XM_017020537.1:c.1011T>A XP_016876026.1:p.Ser337Arg
XM_024449336.1:c.1833T>A XP_024305104.1:p.Ser611Arg
NM_052867.4:c.1776T>A MANE Select NP_443099.1:p.Ser592Arg
NM_001350748.2:c.1776T>A NP_001337677.1:p.Ser592Arg
NM_001350749.2:c.1776T>A NP_001337678.1:p.Ser592Arg
NM_001350750.2:c.1689T>A NP_001337679.1:p.Ser563Arg
NM_001350751.2:c.1689T>A NP_001337680.1:p.Ser563Arg