Canonical Allele Identifier: CA388705479
Gene: NALCN HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.101376805C>A , CM000675.2:g.101376805C>A GRCh38
NC_000013.10:g.102029156C>A , CM000675.1:g.102029156C>A GRCh37
NC_000013.9:g.100827157C>A NCBI36
NG_053176.1:g.45402G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000251127.11:c.539G>T MANE Select ENSP00000251127.6:p.Ser180Ile
ENST00000376200.6:c.539G>T ENSP00000365373.5:p.Ser180Ile
ENST00000648359.1:c.539G>T ENSP00000497465.1:p.Ser180Ile
ENST00000674840.1:n.637G>T
ENST00000674904.1:n.619G>T
ENST00000675150.1:c.539G>T ENSP00000502680.1:p.Ser180Ile
ENST00000675332.1:c.539G>T ENSP00000501955.1:p.Ser180Ile
ENST00000675415.1:n.722G>T
ENST00000675594.1:c.539G>T ENSP00000502490.1:p.Ser180Ile
ENST00000675802.1:c.539G>T ENSP00000501818.1:p.Ser180Ile
ENST00000676315.1:c.539G>T ENSP00000501603.1:p.Ser180Ile
ENST00000676357.1:n.759G>T
ENST00000676439.1:n.713G>T
ENST00000251127.10:c.539G>T ENSP00000251127.6:p.Ser180Ile
ENST00000376200.5:c.539G>T ENSP00000365373.5:p.Ser180Ile
ENST00000470333.1:n.635G>T
ENST00000497170.5:n.728G>T
NM_052867.2:c.539G>T NP_443099.1:p.Ser180Ile
XM_011521067.1:c.596G>T XP_011519369.1:p.Ser199Ile
XM_011521068.1:c.539G>T XP_011519370.1:p.Ser180Ile
XM_011521069.1:c.596G>T XP_011519371.1:p.Ser199Ile
XM_011521070.1:c.596G>T XP_011519372.1:p.Ser199Ile
NM_001350748.1:c.539G>T NP_001337677.1:p.Ser180Ile
NM_001350749.1:c.539G>T NP_001337678.1:p.Ser180Ile
NM_001350750.1:c.539G>T NP_001337679.1:p.Ser180Ile
NM_001350751.1:c.539G>T NP_001337680.1:p.Ser180Ile
NM_052867.3:c.539G>T NP_443099.1:p.Ser180Ile
XM_011521067.2:c.596G>T XP_011519369.1:p.Ser199Ile
XM_011521069.2:c.596G>T XP_011519371.1:p.Ser199Ile
XM_024449336.1:c.596G>T XP_024305104.1:p.Ser199Ile
NM_052867.4:c.539G>T MANE Select NP_443099.1:p.Ser180Ile
NM_001350748.2:c.539G>T NP_001337677.1:p.Ser180Ile
NM_001350749.2:c.539G>T NP_001337678.1:p.Ser180Ile
NM_001350750.2:c.539G>T NP_001337679.1:p.Ser180Ile
NM_001350751.2:c.539G>T NP_001337680.1:p.Ser180Ile