LDH info

Canonical Allele Identifier: CA163107
Gene: SCN8A HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 135651
dbSNP Id: rs587780586

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.51765675G>A , CM000674.2:g.51765675G>A GRCh38
NC_000012.11:g.52159459G>A , CM000674.1:g.52159459G>A GRCh37
NC_000012.10:g.50445726G>A NCBI36
NG_021180.2:g.179440G>A
NG_021180.3:g.180718G>A

Transcript Alleles

HGVS Amino-acid change
NM_001177984.2:c.2549G>A VV NP_001171455.1:p.Arg850Gln
NM_014191.3:c.2549G>A VV NP_055006.1:p.Arg850Gln
XM_006719556.2:c.2549G>A XP_006719619.1:p.Arg850Gln
XM_011538650.1:c.2549G>A XP_011536952.1:p.Arg850Gln
XM_011538651.1:c.2549G>A XP_011536953.1:p.Arg850Gln
NM_001330260.1:c.2549G>A VV NP_001317189.1:p.Arg850Gln
XM_006719556.4:c.2549G>A XP_006719619.1:p.Arg850Gln
XM_011538651.3:c.2549G>A XP_011536953.1:p.Arg850Gln
XM_017019794.2:c.2549G>A XP_016875283.1:p.Arg850Gln
XM_017019795.2:c.2549G>A XP_016875284.1:p.Arg850Gln
XM_017019796.1:c.2549G>A XP_016875285.1:p.Arg850Gln
NM_001330260.2:c.2549G>A VV MANE Preferred NP_001317189.1:p.Arg850Gln
NM_001369788.1:c.2549G>A VV NP_001356717.1:p.Arg850Gln
NM_014191.4:c.2549G>A VV NP_055006.1:p.Arg850Gln
NM_001177984.3:c.2549G>A VV NP_001171455.1:p.Arg850Gln
ENST00000354534.10:c.2549G>A ENSP00000346534.4:p.Arg850Gln
ENST00000355133.7:n.2549G>A ENSP00000347255.4:p.Arg850Gln
ENST00000545061.5:c.2549G>A ENSP00000440360.1:p.Arg850Gln
ENST00000550891.4:n.2677G>A
ENST00000599343.5:n.2582G>A ENSP00000476447.3:p.Arg861Gln
ENST00000627620.2:n.2549G>A ENSP00000487583.1:p.Arg850Gln