Canonical Allele Identifier: CA7034924
Community Standard Title: NM_052867.4(NALCN):c.5065C>T (p.Arg1689Trp)
Gene: NALCN HGNC NCBI
NALCN-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.101055447G>A , CM000675.2:g.101055447G>A GRCh38
NC_000013.10:g.101707799G>A , CM000675.1:g.101707799G>A GRCh37
NC_000013.9:g.100505800G>A NCBI36
NG_053176.1:g.366760C>T

Transcript Alleles

HGVS Amino-acid Change
NM_052867.4:c.5065C>T (NALCN) MANE Select NP_443099.1:p.Arg1689Trp
ENST00000251127.11:c.5065C>T (NALCN) MANE Select ENSP00000251127.6:p.Arg1689Trp
NM_001350748.1:c.5152C>T (NALCN) NP_001337677.1:p.Arg1718Trp
NM_001350748.2:c.5152C>T (NALCN) NP_001337677.1:p.Arg1718Trp
NM_001350749.1:c.5065C>T (NALCN) NP_001337678.1:p.Arg1689Trp
NM_001350749.2:c.5065C>T (NALCN) NP_001337678.1:p.Arg1689Trp
NM_001350750.1:c.4978C>T (NALCN) NP_001337679.1:p.Arg1660Trp
NM_001350750.2:c.4978C>T (NALCN) NP_001337679.1:p.Arg1660Trp
NM_001350751.1:c.4978C>T (NALCN) NP_001337680.1:p.Arg1660Trp
NM_001350751.2:c.4978C>T (NALCN) NP_001337680.1:p.Arg1660Trp
NM_052867.2:c.5065C>T (NALCN) NP_443099.1:p.Arg1689Trp
NM_052867.3:c.5065C>T (NALCN) NP_443099.1:p.Arg1689Trp
NR_047687.1:n.770+1G>A (NALCN-AS1)
ENST00000251127.10:c.5065C>T (NALCN) ENSP00000251127.6:p.Arg1689Trp
ENST00000648359.1:c.*685C>T (NALCN) ENSP00000497465.1:n.*685C>T
ENST00000675150.1:c.4786C>T (NALCN) ENSP00000502680.1:p.Arg1596Trp
ENST00000675332.1:c.5152C>T (NALCN) ENSP00000501955.1:p.Arg1718Trp
ENST00000676315.1:c.4978C>T (NALCN) ENSP00000501603.1:p.Arg1660Trp
XM_011521067.1:c.5122C>T (NALCN) XP_011519369.1:p.Arg1708Trp
XM_011521067.2:c.5122C>T (NALCN) XP_011519369.1:p.Arg1708Trp
XM_011521068.1:c.5065C>T (NALCN) XP_011519370.1:p.Arg1689Trp
XM_011521069.1:c.5035C>T (NALCN) XP_011519371.1:p.Arg1679Trp
XM_011521069.2:c.5035C>T (NALCN) XP_011519371.1:p.Arg1679Trp
XM_011521070.1:c.4843C>T (NALCN) XP_011519372.1:p.Arg1615Trp
XM_017020536.2:c.4618C>T (NALCN) XP_016876025.1:p.Arg1540Trp
XM_017020537.1:c.4300C>T (NALCN) XP_016876026.1:p.Arg1434Trp
XM_024449336.1:c.5209C>T (NALCN) XP_024305104.1:p.Arg1737Trp