Canonical Allele Identifier: CA484763936
Gene: NALCN HGNC NCBI

Linked Data

dbSNP Id: rs2139050092
MyVariant Identifiers: chr13:g.101944683T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.101292332T>C , CM000675.2:g.101292332T>C GRCh38
NC_000013.10:g.101944683T>C , CM000675.1:g.101944683T>C GRCh37
NC_000013.9:g.100742684T>C NCBI36
NG_053176.1:g.129875A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000251127.11:c.834A>G MANE Select ENSP00000251127.6:p.Ser278=
ENST00000648359.1:c.834A>G ENSP00000497465.1:p.Ser278=
ENST00000674840.1:n.932A>G
ENST00000674904.1:n.914A>G
ENST00000675075.1:n.436A>G
ENST00000675150.1:c.834A>G ENSP00000502680.1:p.Ser278=
ENST00000675332.1:c.834A>G ENSP00000501955.1:p.Ser278=
ENST00000675415.1:n.1017A>G
ENST00000675594.1:c.*271A>G ENSP00000502490.1:n.*271A>G
ENST00000675802.1:c.834A>G ENSP00000501818.1:p.Ser278=
ENST00000676315.1:c.834A>G ENSP00000501603.1:p.Ser278=
ENST00000676439.1:n.1008A>G
ENST00000251127.10:c.834A>G ENSP00000251127.6:p.Ser278=
ENST00000470333.1:n.930A>G
ENST00000497170.5:n.988A>G
NM_052867.2:c.834A>G NP_443099.1:p.Ser278=
XM_011521067.1:c.891A>G XP_011519369.1:p.Ser297=
XM_011521068.1:c.834A>G XP_011519370.1:p.Ser278=
XM_011521069.1:c.891A>G XP_011519371.1:p.Ser297=
XM_011521070.1:c.891A>G XP_011519372.1:p.Ser297=
NM_001350748.1:c.834A>G NP_001337677.1:p.Ser278=
NM_001350749.1:c.834A>G NP_001337678.1:p.Ser278=
NM_001350750.1:c.834A>G NP_001337679.1:p.Ser278=
NM_001350751.1:c.834A>G NP_001337680.1:p.Ser278=
NM_052867.3:c.834A>G NP_443099.1:p.Ser278=
XM_011521067.2:c.891A>G XP_011519369.1:p.Ser297=
XM_011521069.2:c.891A>G XP_011519371.1:p.Ser297=
XM_017020536.2:c.387A>G XP_016876025.1:p.Ser129=
XM_017020537.1:c.69A>G XP_016876026.1:p.Ser23=
XM_024449336.1:c.891A>G XP_024305104.1:p.Ser297=
NM_052867.4:c.834A>G MANE Select NP_443099.1:p.Ser278=
NM_001350748.2:c.834A>G NP_001337677.1:p.Ser278=
NM_001350749.2:c.834A>G NP_001337678.1:p.Ser278=
NM_001350750.2:c.834A>G NP_001337679.1:p.Ser278=
NM_001350751.2:c.834A>G NP_001337680.1:p.Ser278=