Canonical Allele Identifier: CA7034914
Community Standard Title: NM_052867.4(NALCN):c.5125G>A (p.Ala1709Thr)
Gene: NALCN HGNC NCBI
NALCN-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.101055387C>T , CM000675.2:g.101055387C>T GRCh38
NC_000013.10:g.101707739C>T , CM000675.1:g.101707739C>T GRCh37
NC_000013.9:g.100505740C>T NCBI36
NG_053176.1:g.366820G>A

Transcript Alleles

HGVS Amino-acid Change
NM_052867.4:c.5125G>A (NALCN) MANE Select NP_443099.1:p.Ala1709Thr
ENST00000251127.11:c.5125G>A (NALCN) MANE Select ENSP00000251127.6:p.Ala1709Thr
NM_001350748.1:c.5212G>A (NALCN) NP_001337677.1:p.Ala1738Thr
NM_001350748.2:c.5212G>A (NALCN) NP_001337677.1:p.Ala1738Thr
NM_001350749.1:c.5125G>A (NALCN) NP_001337678.1:p.Ala1709Thr
NM_001350749.2:c.5125G>A (NALCN) NP_001337678.1:p.Ala1709Thr
NM_001350750.1:c.5038G>A (NALCN) NP_001337679.1:p.Ala1680Thr
NM_001350750.2:c.5038G>A (NALCN) NP_001337679.1:p.Ala1680Thr
NM_001350751.1:c.5038G>A (NALCN) NP_001337680.1:p.Ala1680Thr
NM_001350751.2:c.5038G>A (NALCN) NP_001337680.1:p.Ala1680Thr
NM_052867.2:c.5125G>A (NALCN) NP_443099.1:p.Ala1709Thr
NM_052867.3:c.5125G>A (NALCN) NP_443099.1:p.Ala1709Thr
NR_047687.1:n.711C>T (NALCN-AS1)
ENST00000251127.10:c.5125G>A (NALCN) ENSP00000251127.6:p.Ala1709Thr
ENST00000648359.1:c.*745G>A (NALCN) ENSP00000497465.1:n.*745G>A
ENST00000675150.1:c.4846G>A (NALCN) ENSP00000502680.1:p.Ala1616Thr
ENST00000675332.1:c.5212G>A (NALCN) ENSP00000501955.1:p.Ala1738Thr
ENST00000676315.1:c.5038G>A (NALCN) ENSP00000501603.1:p.Ala1680Thr
XM_011521067.1:c.5182G>A (NALCN) XP_011519369.1:p.Ala1728Thr
XM_011521067.2:c.5182G>A (NALCN) XP_011519369.1:p.Ala1728Thr
XM_011521068.1:c.5125G>A (NALCN) XP_011519370.1:p.Ala1709Thr
XM_011521069.1:c.5095G>A (NALCN) XP_011519371.1:p.Ala1699Thr
XM_011521069.2:c.5095G>A (NALCN) XP_011519371.1:p.Ala1699Thr
XM_011521070.1:c.4903G>A (NALCN) XP_011519372.1:p.Ala1635Thr
XM_017020536.2:c.4678G>A (NALCN) XP_016876025.1:p.Ala1560Thr
XM_017020537.1:c.4360G>A (NALCN) XP_016876026.1:p.Ala1454Thr
XM_024449336.1:c.5269G>A (NALCN) XP_024305104.1:p.Ala1757Thr