Canonical Allele Identifier: CA2114439193
Community Standard Title: NM_052867.4(NALCN):c.1673A= (p.Asp558=)
Gene: NALCN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.101192008T= , CM000675.2:g.101192008T= GRCh38
NC_000013.10:g.101844359T= , CM000675.1:g.101844359T= GRCh37
NC_000013.9:g.100642360T= NCBI36
NG_053176.1:g.230199A=

Transcript Alleles

HGVS Amino-acid Change
NM_052867.4:c.1673A= MANE Select NP_443099.1:p.Asp558=
ENST00000251127.11:c.1673A= MANE Select ENSP00000251127.6:p.Asp558=
NM_001350748.1:c.1673A= NP_001337677.1:p.Asp558=
NM_001350748.2:c.1673A= NP_001337677.1:p.Asp558=
NM_001350749.1:c.1673A= NP_001337678.1:p.Asp558=
NM_001350749.2:c.1673A= NP_001337678.1:p.Asp558=
NM_001350750.1:c.1586A= NP_001337679.1:p.Asp529=
NM_001350750.2:c.1586A= NP_001337679.1:p.Asp529=
NM_001350751.1:c.1586A= NP_001337680.1:p.Asp529=
NM_001350751.2:c.1586A= NP_001337680.1:p.Asp529=
NM_052867.2:c.1673A= NP_443099.1:p.Asp558=
NM_052867.3:c.1673A= NP_443099.1:p.Asp558=
ENST00000251127.10:c.1673A= ENSP00000251127.6:p.Asp558=
ENST00000470333.1:n.1769A=
ENST00000497170.5:n.1827A=
ENST00000648359.1:c.1673A= ENSP00000497465.1:p.Asp558=
ENST00000674840.1:n.1771A=
ENST00000674904.1:n.1753A=
ENST00000675150.1:c.1673A= ENSP00000502680.1:p.Asp558=
ENST00000675332.1:c.1673A= ENSP00000501955.1:p.Asp558=
ENST00000675594.1:c.*1110A= ENSP00000502490.1:n.*1110A=
ENST00000675802.1:c.1673A= ENSP00000501818.1:p.Asp558=
ENST00000676315.1:c.1586A= ENSP00000501603.1:p.Asp529=
ENST00000676439.1:n.1847A=
XM_011521067.1:c.1730A= XP_011519369.1:p.Asp577=
XM_011521067.2:c.1730A= XP_011519369.1:p.Asp577=
XM_011521068.1:c.1673A= XP_011519370.1:p.Asp558=
XM_011521069.1:c.1643A= XP_011519371.1:p.Asp548=
XM_011521069.2:c.1643A= XP_011519371.1:p.Asp548=
XM_011521070.1:c.1730A= XP_011519372.1:p.Asp577=
XM_017020536.2:c.1226A= XP_016876025.1:p.Asp409=
XM_017020537.1:c.908A= XP_016876026.1:p.Asp303=
XM_024449336.1:c.1730A= XP_024305104.1:p.Asp577=