LDH info

Canonical Allele Identifier: CA170757
Gene: SCN8A HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 156106
dbSNP Id: rs587777721

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.51806336G>A , CM000674.2:g.51806336G>A GRCh38
NC_000012.11:g.52200120G>A , CM000674.1:g.52200120G>A GRCh37
NC_000012.10:g.50486387G>A NCBI36
NG_021180.2:g.220101G>A
NG_021180.3:g.221379G>A

Transcript Alleles

HGVS Amino-acid change
NM_001177984.2:c.4727G>A VV NP_001171455.1:p.Arg1576Gln
NM_014191.3:c.4850G>A VV NP_055006.1:p.Arg1617Gln
XM_006719556.2:c.4850G>A XP_006719619.1:p.Arg1617Gln
XM_011538650.1:c.4850G>A XP_011536952.1:p.Arg1617Gln
XM_011538651.1:c.4850G>A XP_011536953.1:p.Arg1617Gln
NM_001330260.1:c.4850G>A VV NP_001317189.1:p.Arg1617Gln
XM_006719556.4:c.4850G>A XP_006719619.1:p.Arg1617Gln
XM_011538651.3:c.4850G>A XP_011536953.1:p.Arg1617Gln
XM_017019794.2:c.4850G>A XP_016875283.1:p.Arg1617Gln
XM_017019795.2:c.4727G>A XP_016875284.1:p.Arg1576Gln
NM_001330260.2:c.4850G>A VV MANE Preferred NP_001317189.1:p.Arg1617Gln
NM_001369788.1:c.4727G>A VV NP_001356717.1:p.Arg1576Gln
NM_014191.4:c.4850G>A VV NP_055006.1:p.Arg1617Gln
NM_001177984.3:c.4727G>A VV NP_001171455.1:p.Arg1576Gln
ENST00000354534.10:c.4850G>A ENSP00000346534.4:p.Arg1617Gln
ENST00000355133.7:n.4727G>A ENSP00000347255.4:p.Arg1576Gln
ENST00000545061.5:c.4727G>A ENSP00000440360.1:p.Arg1576Gln
ENST00000599343.5:n.4883G>A ENSP00000476447.3:p.Arg1628Gln
ENST00000627620.2:n.4850G>A ENSP00000487583.1:p.Arg1617Gln