Canonical Allele Identifier: CA7034913
Community Standard Title: NM_052867.4(NALCN):c.5127G>A (p.Ala1709=)
Gene: NALCN HGNC NCBI
NALCN-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.101055385C>T , CM000675.2:g.101055385C>T GRCh38
NC_000013.10:g.101707737C>T , CM000675.1:g.101707737C>T GRCh37
NC_000013.9:g.100505738C>T NCBI36
NG_053176.1:g.366822G>A

Transcript Alleles

HGVS Amino-acid Change
NM_052867.4:c.5127G>A (NALCN) MANE Select NP_443099.1:p.Ala1709=
ENST00000251127.11:c.5127G>A (NALCN) MANE Select ENSP00000251127.6:p.Ala1709=
NM_001350748.1:c.5214G>A (NALCN) NP_001337677.1:p.Ala1738=
NM_001350748.2:c.5214G>A (NALCN) NP_001337677.1:p.Ala1738=
NM_001350749.1:c.5127G>A (NALCN) NP_001337678.1:p.Ala1709=
NM_001350749.2:c.5127G>A (NALCN) NP_001337678.1:p.Ala1709=
NM_001350750.1:c.5040G>A (NALCN) NP_001337679.1:p.Ala1680=
NM_001350750.2:c.5040G>A (NALCN) NP_001337679.1:p.Ala1680=
NM_001350751.1:c.5040G>A (NALCN) NP_001337680.1:p.Ala1680=
NM_001350751.2:c.5040G>A (NALCN) NP_001337680.1:p.Ala1680=
NM_052867.2:c.5127G>A (NALCN) NP_443099.1:p.Ala1709=
NM_052867.3:c.5127G>A (NALCN) NP_443099.1:p.Ala1709=
NR_047687.1:n.709C>T (NALCN-AS1)
ENST00000251127.10:c.5127G>A (NALCN) ENSP00000251127.6:p.Ala1709=
ENST00000648359.1:c.*747G>A (NALCN) ENSP00000497465.1:n.*747G>A
ENST00000675150.1:c.4848G>A (NALCN) ENSP00000502680.1:p.Ala1616=
ENST00000675332.1:c.5214G>A (NALCN) ENSP00000501955.1:p.Ala1738=
ENST00000676315.1:c.5040G>A (NALCN) ENSP00000501603.1:p.Ala1680=
XM_011521067.1:c.5184G>A (NALCN) XP_011519369.1:p.Ala1728=
XM_011521067.2:c.5184G>A (NALCN) XP_011519369.1:p.Ala1728=
XM_011521068.1:c.5127G>A (NALCN) XP_011519370.1:p.Ala1709=
XM_011521069.1:c.5097G>A (NALCN) XP_011519371.1:p.Ala1699=
XM_011521069.2:c.5097G>A (NALCN) XP_011519371.1:p.Ala1699=
XM_011521070.1:c.4905G>A (NALCN) XP_011519372.1:p.Ala1635=
XM_017020536.2:c.4680G>A (NALCN) XP_016876025.1:p.Ala1560=
XM_017020537.1:c.4362G>A (NALCN) XP_016876026.1:p.Ala1454=
XM_024449336.1:c.5271G>A (NALCN) XP_024305104.1:p.Ala1757=