Canonical Allele Identifier: CA388703366
Community Standard Title: NM_052867.4(NALCN):c.1759A>G (p.Thr587Ala)
Gene: NALCN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.101191922T>C , CM000675.2:g.101191922T>C GRCh38
NC_000013.10:g.101844273T>C , CM000675.1:g.101844273T>C GRCh37
NC_000013.9:g.100642274T>C NCBI36
NG_053176.1:g.230285A>G

Transcript Alleles

HGVS Amino-acid Change
NM_052867.4:c.1759A>G MANE Select NP_443099.1:p.Thr587Ala
ENST00000251127.11:c.1759A>G MANE Select ENSP00000251127.6:p.Thr587Ala
NM_001350748.1:c.1759A>G NP_001337677.1:p.Thr587Ala
NM_001350748.2:c.1759A>G NP_001337677.1:p.Thr587Ala
NM_001350749.1:c.1759A>G NP_001337678.1:p.Thr587Ala
NM_001350749.2:c.1759A>G NP_001337678.1:p.Thr587Ala
NM_001350750.1:c.1672A>G NP_001337679.1:p.Thr558Ala
NM_001350750.2:c.1672A>G NP_001337679.1:p.Thr558Ala
NM_001350751.1:c.1672A>G NP_001337680.1:p.Thr558Ala
NM_001350751.2:c.1672A>G NP_001337680.1:p.Thr558Ala
NM_052867.2:c.1759A>G NP_443099.1:p.Thr587Ala
NM_052867.3:c.1759A>G NP_443099.1:p.Thr587Ala
ENST00000251127.10:c.1759A>G ENSP00000251127.6:p.Thr587Ala
ENST00000470333.1:n.1855A>G
ENST00000497170.5:n.1913A>G
ENST00000648359.1:c.1759A>G ENSP00000497465.1:p.Thr587Ala
ENST00000674840.1:n.1857A>G
ENST00000674904.1:n.1839A>G
ENST00000675150.1:c.1759A>G ENSP00000502680.1:p.Thr587Ala
ENST00000675332.1:c.1759A>G ENSP00000501955.1:p.Thr587Ala
ENST00000675594.1:c.*1196A>G ENSP00000502490.1:n.*1196A>G
ENST00000675802.1:c.1759A>G ENSP00000501818.1:p.Thr587Ala
ENST00000676315.1:c.1672A>G ENSP00000501603.1:p.Thr558Ala
ENST00000676439.1:n.1933A>G
XM_011521067.1:c.1816A>G XP_011519369.1:p.Thr606Ala
XM_011521067.2:c.1816A>G XP_011519369.1:p.Thr606Ala
XM_011521068.1:c.1759A>G XP_011519370.1:p.Thr587Ala
XM_011521069.1:c.1729A>G XP_011519371.1:p.Thr577Ala
XM_011521069.2:c.1729A>G XP_011519371.1:p.Thr577Ala
XM_011521070.1:c.1816A>G XP_011519372.1:p.Thr606Ala
XM_017020536.2:c.1312A>G XP_016876025.1:p.Thr438Ala
XM_017020537.1:c.994A>G XP_016876026.1:p.Thr332Ala
XM_024449336.1:c.1816A>G XP_024305104.1:p.Thr606Ala