Canonical Allele Identifier: CA7035778
Community Standard Title: NM_052867.4(NALCN):c.2242G>A (p.Ala748Thr)
Gene: NALCN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.101111177C>T , CM000675.2:g.101111177C>T GRCh38
NC_000013.10:g.101763528C>T , CM000675.1:g.101763528C>T GRCh37
NC_000013.9:g.100561529C>T NCBI36
NG_053176.1:g.311030G>A

Transcript Alleles

HGVS Amino-acid Change
NM_052867.4:c.2242G>A MANE Select NP_443099.1:p.Ala748Thr
ENST00000251127.11:c.2242G>A MANE Select ENSP00000251127.6:p.Ala748Thr
NM_001350748.1:c.2329G>A NP_001337677.1:p.Ala777Thr
NM_001350748.2:c.2329G>A NP_001337677.1:p.Ala777Thr
NM_001350749.1:c.2242G>A NP_001337678.1:p.Ala748Thr
NM_001350749.2:c.2242G>A NP_001337678.1:p.Ala748Thr
NM_001350750.1:c.2155G>A NP_001337679.1:p.Ala719Thr
NM_001350750.2:c.2155G>A NP_001337679.1:p.Ala719Thr
NM_001350751.1:c.2155G>A NP_001337680.1:p.Ala719Thr
NM_001350751.2:c.2155G>A NP_001337680.1:p.Ala719Thr
NM_052867.2:c.2242G>A NP_443099.1:p.Ala748Thr
NM_052867.3:c.2242G>A NP_443099.1:p.Ala748Thr
ENST00000251127.10:c.2242G>A ENSP00000251127.6:p.Ala748Thr
ENST00000648359.1:c.2242G>A ENSP00000497465.1:p.Ala748Thr
ENST00000675150.1:c.1963G>A ENSP00000502680.1:p.Ala655Thr
ENST00000675332.1:c.2329G>A ENSP00000501955.1:p.Ala777Thr
ENST00000676315.1:c.2155G>A ENSP00000501603.1:p.Ala719Thr
XM_011521067.1:c.2299G>A XP_011519369.1:p.Ala767Thr
XM_011521067.2:c.2299G>A XP_011519369.1:p.Ala767Thr
XM_011521068.1:c.2242G>A XP_011519370.1:p.Ala748Thr
XM_011521069.1:c.2212G>A XP_011519371.1:p.Ala738Thr
XM_011521069.2:c.2212G>A XP_011519371.1:p.Ala738Thr
XM_011521070.1:c.2020G>A XP_011519372.1:p.Ala674Thr
XM_017020536.2:c.1795G>A XP_016876025.1:p.Ala599Thr
XM_017020537.1:c.1477G>A XP_016876026.1:p.Ala493Thr
XM_024449336.1:c.2386G>A XP_024305104.1:p.Ala796Thr