Canonical Allele Identifier: CA388653153
Community Standard Title: NM_052867.4(NALCN):c.3345A>T (p.Lys1115Asn)
Gene: NALCN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.101089891T>A , CM000675.2:g.101089891T>A GRCh38
NC_000013.10:g.101742242T>A , CM000675.1:g.101742242T>A GRCh37
NC_000013.9:g.100540243T>A NCBI36
NG_053176.1:g.332316A>T

Transcript Alleles

HGVS Amino-acid Change
NM_052867.4:c.3345A>T MANE Select NP_443099.1:p.Lys1115Asn
ENST00000251127.11:c.3345A>T MANE Select ENSP00000251127.6:p.Lys1115Asn
NM_001350748.1:c.3432A>T NP_001337677.1:p.Lys1144Asn
NM_001350748.2:c.3432A>T NP_001337677.1:p.Lys1144Asn
NM_001350749.1:c.3345A>T NP_001337678.1:p.Lys1115Asn
NM_001350749.2:c.3345A>T NP_001337678.1:p.Lys1115Asn
NM_001350750.1:c.3258A>T NP_001337679.1:p.Lys1086Asn
NM_001350750.2:c.3258A>T NP_001337679.1:p.Lys1086Asn
NM_001350751.1:c.3258A>T NP_001337680.1:p.Lys1086Asn
NM_001350751.2:c.3258A>T NP_001337680.1:p.Lys1086Asn
NM_052867.2:c.3345A>T NP_443099.1:p.Lys1115Asn
NM_052867.3:c.3345A>T NP_443099.1:p.Lys1115Asn
ENST00000251127.10:c.3345A>T ENSP00000251127.6:p.Lys1115Asn
ENST00000648359.1:c.3345A>T ENSP00000497465.1:p.Lys1115Asn
ENST00000675150.1:c.3066A>T ENSP00000502680.1:p.Lys1022Asn
ENST00000675332.1:c.3432A>T ENSP00000501955.1:p.Lys1144Asn
ENST00000676315.1:c.3258A>T ENSP00000501603.1:p.Lys1086Asn
XM_011521067.1:c.3402A>T XP_011519369.1:p.Lys1134Asn
XM_011521067.2:c.3402A>T XP_011519369.1:p.Lys1134Asn
XM_011521068.1:c.3345A>T XP_011519370.1:p.Lys1115Asn
XM_011521069.1:c.3315A>T XP_011519371.1:p.Lys1105Asn
XM_011521069.2:c.3315A>T XP_011519371.1:p.Lys1105Asn
XM_011521070.1:c.3123A>T XP_011519372.1:p.Lys1041Asn
XM_017020536.2:c.2898A>T XP_016876025.1:p.Lys966Asn
XM_017020537.1:c.2580A>T XP_016876026.1:p.Lys860Asn
XM_024449336.1:c.3489A>T XP_024305104.1:p.Lys1163Asn