LDH info

Canonical Allele Identifier: CA16606743
Gene: NALCN HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 391479
ClinVar RCV Id: RCV000423757
dbSNP Id: rs972964381

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.101143190G>A , CM000675.2:g.101143190G>A GRCh38
NC_000013.10:g.101795541G>A , CM000675.1:g.101795541G>A GRCh37
NC_000013.9:g.100593542G>A NCBI36
NG_053176.1:g.279017C>T

Transcript Alleles

HGVS Amino-acid change
NM_052867.2:c.2008C>T VV NP_443099.1:p.Gln670Ter
XM_011521067.1:c.2065C>T XP_011519369.1:p.Gln689Ter
XM_011521068.1:c.2008C>T XP_011519370.1:p.Gln670Ter
XM_011521069.1:c.1978C>T XP_011519371.1:p.Gln660Ter
XM_011521070.1:c.1897-18509C>T XP_011519372.1:p.=
NM_001350748.1:c.2008C>T VV NP_001337677.1:p.Gln670Ter
NM_001350749.1:c.2008C>T VV NP_001337678.1:p.Gln670Ter
NM_001350750.1:c.1921C>T VV NP_001337679.1:p.Gln641Ter
NM_001350751.1:c.1921C>T VV NP_001337680.1:p.Gln641Ter
NM_052867.3:c.2008C>T VV NP_443099.1:p.Gln670Ter
XM_011521067.2:c.2065C>T XP_011519369.1:p.Gln689Ter
XM_011521069.2:c.1978C>T XP_011519371.1:p.Gln660Ter
XM_017020536.2:c.1561C>T XP_016876025.1:p.Gln521Ter
XM_017020537.1:c.1243C>T XP_016876026.1:p.Gln415Ter
XM_024449336.1:c.2065C>T XP_024305104.1:p.Gln689Ter
NM_052867.4:c.2008C>T VV MANE Preferred NP_443099.1:p.Gln670Ter
ENST00000251127.10:c.2008C>T ENSP00000251127.6:p.Gln670Ter
ENST00000467264.1:n.32C>T
ENST00000497170.5:n.2162C>T