LDH info

Canonical Allele Identifier: CA144793
Gene: NALCN HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 65422
ClinVar RCV Id: RCV000055644
dbSNP Id: rs587777038

User contributed link-outs

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
NM_052867.2:c.1924C>T VV NP_443099.1:p.Gln642Ter
XM_011521067.1:c.1981C>T XP_011519369.1:p.Gln661Ter
XM_011521068.1:c.1924C>T XP_011519370.1:p.Gln642Ter
XM_011521069.1:c.1894C>T XP_011519371.1:p.Gln632Ter
XM_011521070.1:c.1897-20131C>T XP_011519372.1:p.=
NM_001350748.1:c.1924C>T VV NP_001337677.1:p.Gln642Ter
NM_001350749.1:c.1924C>T VV NP_001337678.1:p.Gln642Ter
NM_001350750.1:c.1837C>T VV NP_001337679.1:p.Gln613Ter
NM_001350751.1:c.1837C>T VV NP_001337680.1:p.Gln613Ter
NM_052867.3:c.1924C>T VV NP_443099.1:p.Gln642Ter
XM_011521067.2:c.1981C>T XP_011519369.1:p.Gln661Ter
XM_011521069.2:c.1894C>T XP_011519371.1:p.Gln632Ter
XM_017020536.2:c.1477C>T XP_016876025.1:p.Gln493Ter
XM_017020537.1:c.1159C>T XP_016876026.1:p.Gln387Ter
XM_024449336.1:c.1981C>T XP_024305104.1:p.Gln661Ter
NM_052867.4:c.1924C>T VV MANE Preferred NP_443099.1:p.Gln642Ter
ENST00000251127.10:c.1924C>T ENSP00000251127.6:p.Gln642Ter
ENST00000497170.5:n.2078C>T