Canonical Allele Identifier: CA388703732
Community Standard Title: NM_052867.4(NALCN):c.1245C>A (p.Tyr415Ter)
Gene: NALCN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.101258464G>T , CM000675.2:g.101258464G>T GRCh38
NC_000013.10:g.101910815G>T , CM000675.1:g.101910815G>T GRCh37
NC_000013.9:g.100708816G>T NCBI36
NG_053176.1:g.163743C>A

Transcript Alleles

HGVS Amino-acid Change
NM_052867.4:c.1245C>A MANE Select NP_443099.1:p.Tyr415Ter
ENST00000251127.11:c.1245C>A MANE Select ENSP00000251127.6:p.Tyr415Ter
NM_001350748.1:c.1245C>A NP_001337677.1:p.Tyr415Ter
NM_001350748.2:c.1245C>A NP_001337677.1:p.Tyr415Ter
NM_001350749.1:c.1245C>A NP_001337678.1:p.Tyr415Ter
NM_001350749.2:c.1245C>A NP_001337678.1:p.Tyr415Ter
NM_001350750.1:c.1158C>A NP_001337679.1:p.Tyr386Ter
NM_001350750.2:c.1158C>A NP_001337679.1:p.Tyr386Ter
NM_001350751.1:c.1158C>A NP_001337680.1:p.Tyr386Ter
NM_001350751.2:c.1158C>A NP_001337680.1:p.Tyr386Ter
NM_052867.2:c.1245C>A NP_443099.1:p.Tyr415Ter
NM_052867.3:c.1245C>A NP_443099.1:p.Tyr415Ter
ENST00000251127.10:c.1245C>A ENSP00000251127.6:p.Tyr415Ter
ENST00000470333.1:n.1341C>A
ENST00000497170.5:n.1399C>A
ENST00000648359.1:c.1245C>A ENSP00000497465.1:p.Tyr415Ter
ENST00000674840.1:n.1343C>A
ENST00000674904.1:n.1325C>A
ENST00000675150.1:c.1245C>A ENSP00000502680.1:p.Tyr415Ter
ENST00000675332.1:c.1245C>A ENSP00000501955.1:p.Tyr415Ter
ENST00000675594.1:c.*682C>A ENSP00000502490.1:n.*682C>A
ENST00000675802.1:c.1245C>A ENSP00000501818.1:p.Tyr415Ter
ENST00000676315.1:c.1158C>A ENSP00000501603.1:p.Tyr386Ter
ENST00000676439.1:n.1419C>A
XM_011521067.1:c.1302C>A XP_011519369.1:p.Tyr434Ter
XM_011521067.2:c.1302C>A XP_011519369.1:p.Tyr434Ter
XM_011521068.1:c.1245C>A XP_011519370.1:p.Tyr415Ter
XM_011521069.1:c.1215C>A XP_011519371.1:p.Tyr405Ter
XM_011521069.2:c.1215C>A XP_011519371.1:p.Tyr405Ter
XM_011521070.1:c.1302C>A XP_011519372.1:p.Tyr434Ter
XM_017020536.2:c.798C>A XP_016876025.1:p.Tyr266Ter
XM_017020537.1:c.480C>A XP_016876026.1:p.Tyr160Ter
XM_024449336.1:c.1302C>A XP_024305104.1:p.Tyr434Ter