Canonical Allele Identifier: CA388649621
Community Standard Title: NM_052867.4(NALCN):c.3959C>T (p.Thr1320Met)
Gene: NALCN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.101074658G>A , CM000675.2:g.101074658G>A GRCh38
NC_000013.10:g.101727009G>A , CM000675.1:g.101727009G>A GRCh37
NC_000013.9:g.100525010G>A NCBI36
NG_053176.1:g.347549C>T

Transcript Alleles

HGVS Amino-acid Change
NM_052867.4:c.3959C>T MANE Select NP_443099.1:p.Thr1320Met
ENST00000251127.11:c.3959C>T MANE Select ENSP00000251127.6:p.Thr1320Met
NM_001350748.1:c.4046C>T NP_001337677.1:p.Thr1349Met
NM_001350748.2:c.4046C>T NP_001337677.1:p.Thr1349Met
NM_001350749.1:c.3959C>T NP_001337678.1:p.Thr1320Met
NM_001350749.2:c.3959C>T NP_001337678.1:p.Thr1320Met
NM_001350750.1:c.3872C>T NP_001337679.1:p.Thr1291Met
NM_001350750.2:c.3872C>T NP_001337679.1:p.Thr1291Met
NM_001350751.1:c.3872C>T NP_001337680.1:p.Thr1291Met
NM_001350751.2:c.3872C>T NP_001337680.1:p.Thr1291Met
NM_052867.2:c.3959C>T NP_443099.1:p.Thr1320Met
NM_052867.3:c.3959C>T NP_443099.1:p.Thr1320Met
ENST00000251127.10:c.3959C>T ENSP00000251127.6:p.Thr1320Met
ENST00000648359.1:c.3959C>T ENSP00000497465.1:p.Thr1320Met
ENST00000675150.1:c.3680C>T ENSP00000502680.1:p.Thr1227Met
ENST00000675332.1:c.4046C>T ENSP00000501955.1:p.Thr1349Met
ENST00000676315.1:c.3872C>T ENSP00000501603.1:p.Thr1291Met
XM_011521067.1:c.4016C>T XP_011519369.1:p.Thr1339Met
XM_011521067.2:c.4016C>T XP_011519369.1:p.Thr1339Met
XM_011521068.1:c.3959C>T XP_011519370.1:p.Thr1320Met
XM_011521069.1:c.3929C>T XP_011519371.1:p.Thr1310Met
XM_011521069.2:c.3929C>T XP_011519371.1:p.Thr1310Met
XM_011521070.1:c.3737C>T XP_011519372.1:p.Thr1246Met
XM_017020536.2:c.3512C>T XP_016876025.1:p.Thr1171Met
XM_017020537.1:c.3194C>T XP_016876026.1:p.Thr1065Met
XM_024449336.1:c.4103C>T XP_024305104.1:p.Thr1368Met