Canonical Allele Identifier: CA388643137
Community Standard Title: NM_052867.4(NALCN):c.5080A>G (p.Thr1694Ala)
Gene: NALCN HGNC NCBI
NALCN-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.101055432T>C , CM000675.2:g.101055432T>C GRCh38
NC_000013.10:g.101707784T>C , CM000675.1:g.101707784T>C GRCh37
NC_000013.9:g.100505785T>C NCBI36
NG_053176.1:g.366775A>G

Transcript Alleles

HGVS Amino-acid Change
NM_052867.4:c.5080A>G (NALCN) MANE Select NP_443099.1:p.Thr1694Ala
ENST00000251127.11:c.5080A>G (NALCN) MANE Select ENSP00000251127.6:p.Thr1694Ala
NM_001350748.1:c.5167A>G (NALCN) NP_001337677.1:p.Thr1723Ala
NM_001350748.2:c.5167A>G (NALCN) NP_001337677.1:p.Thr1723Ala
NM_001350749.1:c.5080A>G (NALCN) NP_001337678.1:p.Thr1694Ala
NM_001350749.2:c.5080A>G (NALCN) NP_001337678.1:p.Thr1694Ala
NM_001350750.1:c.4993A>G (NALCN) NP_001337679.1:p.Thr1665Ala
NM_001350750.2:c.4993A>G (NALCN) NP_001337679.1:p.Thr1665Ala
NM_001350751.1:c.4993A>G (NALCN) NP_001337680.1:p.Thr1665Ala
NM_001350751.2:c.4993A>G (NALCN) NP_001337680.1:p.Thr1665Ala
NM_052867.2:c.5080A>G (NALCN) NP_443099.1:p.Thr1694Ala
NM_052867.3:c.5080A>G (NALCN) NP_443099.1:p.Thr1694Ala
NR_047687.1:n.756T>C (NALCN-AS1)
ENST00000251127.10:c.5080A>G (NALCN) ENSP00000251127.6:p.Thr1694Ala
ENST00000648359.1:c.*700A>G (NALCN) ENSP00000497465.1:n.*700A>G
ENST00000675150.1:c.4801A>G (NALCN) ENSP00000502680.1:p.Thr1601Ala
ENST00000675332.1:c.5167A>G (NALCN) ENSP00000501955.1:p.Thr1723Ala
ENST00000676315.1:c.4993A>G (NALCN) ENSP00000501603.1:p.Thr1665Ala
XM_011521067.1:c.5137A>G (NALCN) XP_011519369.1:p.Thr1713Ala
XM_011521067.2:c.5137A>G (NALCN) XP_011519369.1:p.Thr1713Ala
XM_011521068.1:c.5080A>G (NALCN) XP_011519370.1:p.Thr1694Ala
XM_011521069.1:c.5050A>G (NALCN) XP_011519371.1:p.Thr1684Ala
XM_011521069.2:c.5050A>G (NALCN) XP_011519371.1:p.Thr1684Ala
XM_011521070.1:c.4858A>G (NALCN) XP_011519372.1:p.Thr1620Ala
XM_017020536.2:c.4633A>G (NALCN) XP_016876025.1:p.Thr1545Ala
XM_017020537.1:c.4315A>G (NALCN) XP_016876026.1:p.Thr1439Ala
XM_024449336.1:c.5224A>G (NALCN) XP_024305104.1:p.Thr1742Ala