Canonical Allele Identifier: CA2114417324
Community Standard Title: NM_052867.4(NALCN):c.1924C= (p.Gln642=)
Gene: NALCN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.101144812G= , CM000675.2:g.101144812G= GRCh38
NC_000013.10:g.101797163G= , CM000675.1:g.101797163G= GRCh37
NC_000013.9:g.100595164G= NCBI36
NG_053176.1:g.277395C=

Transcript Alleles

HGVS Amino-acid Change
NM_052867.4:c.1924C= MANE Select NP_443099.1:p.Gln642=
ENST00000251127.11:c.1924C= MANE Select ENSP00000251127.6:p.Gln642=
NM_001350748.1:c.1924C= NP_001337677.1:p.Gln642=
NM_001350748.2:c.1924C= NP_001337677.1:p.Gln642=
NM_001350749.1:c.1924C= NP_001337678.1:p.Gln642=
NM_001350749.2:c.1924C= NP_001337678.1:p.Gln642=
NM_001350750.1:c.1837C= NP_001337679.1:p.Gln613=
NM_001350750.2:c.1837C= NP_001337679.1:p.Gln613=
NM_001350751.1:c.1837C= NP_001337680.1:p.Gln613=
NM_001350751.2:c.1837C= NP_001337680.1:p.Gln613=
NM_052867.2:c.1924C= NP_443099.1:p.Gln642=
NM_052867.3:c.1924C= NP_443099.1:p.Gln642=
ENST00000251127.10:c.1924C= ENSP00000251127.6:p.Gln642=
ENST00000467264.2:c.116C=
ENST00000497170.5:n.2078C=
ENST00000648359.1:c.1924C= ENSP00000497465.1:p.Gln642=
ENST00000675150.1:c.1840-20131C= ENSP00000502680.1:n.1840-20131C=
ENST00000675332.1:c.1924C= ENSP00000501955.1:p.Gln642=
ENST00000675802.1:c.1924C= ENSP00000501818.1:p.Gln642=
ENST00000676315.1:c.1837C= ENSP00000501603.1:p.Gln613=
XM_011521067.1:c.1981C= XP_011519369.1:p.Gln661=
XM_011521067.2:c.1981C= XP_011519369.1:p.Gln661=
XM_011521068.1:c.1924C= XP_011519370.1:p.Gln642=
XM_011521069.1:c.1894C= XP_011519371.1:p.Gln632=
XM_011521069.2:c.1894C= XP_011519371.1:p.Gln632=
XM_011521070.1:c.1897-20131C= XP_011519372.1:n.1897-20131C=
XM_017020536.2:c.1477C= XP_016876025.1:p.Gln493=
XM_017020537.1:c.1159C= XP_016876026.1:p.Gln387=
XM_024449336.1:c.1981C= XP_024305104.1:p.Gln661=