Canonical Allele Identifier: CA388670410
Community Standard Title: NM_052867.4(NALCN):c.2483A>G (p.Glu828Gly)
Gene: NALCN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.101107583T>C , CM000675.2:g.101107583T>C GRCh38
NC_000013.10:g.101759934T>C , CM000675.1:g.101759934T>C GRCh37
NC_000013.9:g.100557935T>C NCBI36
NG_053176.1:g.314624A>G

Transcript Alleles

HGVS Amino-acid Change
NM_052867.4:c.2483A>G MANE Select NP_443099.1:p.Glu828Gly
ENST00000251127.11:c.2483A>G MANE Select ENSP00000251127.6:p.Glu828Gly
NM_001350748.1:c.2570A>G NP_001337677.1:p.Glu857Gly
NM_001350748.2:c.2570A>G NP_001337677.1:p.Glu857Gly
NM_001350749.1:c.2483A>G NP_001337678.1:p.Glu828Gly
NM_001350749.2:c.2483A>G NP_001337678.1:p.Glu828Gly
NM_001350750.1:c.2396A>G NP_001337679.1:p.Glu799Gly
NM_001350750.2:c.2396A>G NP_001337679.1:p.Glu799Gly
NM_001350751.1:c.2396A>G NP_001337680.1:p.Glu799Gly
NM_001350751.2:c.2396A>G NP_001337680.1:p.Glu799Gly
NM_052867.2:c.2483A>G NP_443099.1:p.Glu828Gly
NM_052867.3:c.2483A>G NP_443099.1:p.Glu828Gly
ENST00000251127.10:c.2483A>G ENSP00000251127.6:p.Glu828Gly
ENST00000648359.1:c.2483A>G ENSP00000497465.1:p.Glu828Gly
ENST00000675150.1:c.2204A>G ENSP00000502680.1:p.Glu735Gly
ENST00000675332.1:c.2570A>G ENSP00000501955.1:p.Glu857Gly
ENST00000676315.1:c.2396A>G ENSP00000501603.1:p.Glu799Gly
XM_011521067.1:c.2540A>G XP_011519369.1:p.Glu847Gly
XM_011521067.2:c.2540A>G XP_011519369.1:p.Glu847Gly
XM_011521068.1:c.2483A>G XP_011519370.1:p.Glu828Gly
XM_011521069.1:c.2453A>G XP_011519371.1:p.Glu818Gly
XM_011521069.2:c.2453A>G XP_011519371.1:p.Glu818Gly
XM_011521070.1:c.2261A>G XP_011519372.1:p.Glu754Gly
XM_017020536.2:c.2036A>G XP_016876025.1:p.Glu679Gly
XM_017020537.1:c.1718A>G XP_016876026.1:p.Glu573Gly
XM_024449336.1:c.2627A>G XP_024305104.1:p.Glu876Gly