Canonical Allele Identifier: CA388671815
Community Standard Title: NM_052867.4(NALCN):c.1894C>T (p.Arg632Ter)
Gene: NALCN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.101144842G>A , CM000675.2:g.101144842G>A GRCh38
NC_000013.10:g.101797193G>A , CM000675.1:g.101797193G>A GRCh37
NC_000013.9:g.100595194G>A NCBI36
NG_053176.1:g.277365C>T

Transcript Alleles

HGVS Amino-acid Change
NM_052867.4:c.1894C>T MANE Select NP_443099.1:p.Arg632Ter
ENST00000251127.11:c.1894C>T MANE Select ENSP00000251127.6:p.Arg632Ter
NM_001350748.1:c.1894C>T NP_001337677.1:p.Arg632Ter
NM_001350748.2:c.1894C>T NP_001337677.1:p.Arg632Ter
NM_001350749.1:c.1894C>T NP_001337678.1:p.Arg632Ter
NM_001350749.2:c.1894C>T NP_001337678.1:p.Arg632Ter
NM_001350750.1:c.1807C>T NP_001337679.1:p.Arg603Ter
NM_001350750.2:c.1807C>T NP_001337679.1:p.Arg603Ter
NM_001350751.1:c.1807C>T NP_001337680.1:p.Arg603Ter
NM_001350751.2:c.1807C>T NP_001337680.1:p.Arg603Ter
NM_052867.2:c.1894C>T NP_443099.1:p.Arg632Ter
NM_052867.3:c.1894C>T NP_443099.1:p.Arg632Ter
ENST00000251127.10:c.1894C>T ENSP00000251127.6:p.Arg632Ter
ENST00000467264.2:c.86C>T
ENST00000497170.5:n.2048C>T
ENST00000648359.1:c.1894C>T ENSP00000497465.1:p.Arg632Ter
ENST00000675150.1:c.1840-20161C>T ENSP00000502680.1:n.1840-20161C>T
ENST00000675332.1:c.1894C>T ENSP00000501955.1:p.Arg632Ter
ENST00000675802.1:c.1894C>T ENSP00000501818.1:p.Arg632Ter
ENST00000676315.1:c.1807C>T ENSP00000501603.1:p.Arg603Ter
XM_011521067.1:c.1951C>T XP_011519369.1:p.Arg651Ter
XM_011521067.2:c.1951C>T XP_011519369.1:p.Arg651Ter
XM_011521068.1:c.1894C>T XP_011519370.1:p.Arg632Ter
XM_011521069.1:c.1864C>T XP_011519371.1:p.Arg622Ter
XM_011521069.2:c.1864C>T XP_011519371.1:p.Arg622Ter
XM_011521070.1:c.1897-20161C>T XP_011519372.1:n.1897-20161C>T
XM_017020536.2:c.1447C>T XP_016876025.1:p.Arg483Ter
XM_017020537.1:c.1129C>T XP_016876026.1:p.Arg377Ter
XM_024449336.1:c.1951C>T XP_024305104.1:p.Arg651Ter