LDH info

Canonical Allele Identifier: CA318272
Gene: SCN8A HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 207117
dbSNP Id: rs796053214

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.51786554G>T , CM000674.2:g.51786554G>T GRCh38
NC_000012.11:g.52180338G>T , CM000674.1:g.52180338G>T GRCh37
NC_000012.10:g.50466605G>T NCBI36
NG_021180.2:g.200319G>T
NG_021180.3:g.201597G>T

Transcript Alleles

HGVS Amino-acid change
NM_001177984.2:c.3832G>T VV NP_001171455.1:p.Ala1278Ser
NM_014191.3:c.3955G>T VV NP_055006.1:p.Ala1319Ser
XM_006719556.2:c.3955G>T XP_006719619.1:p.Ala1319Ser
XM_011538650.1:c.3955G>T XP_011536952.1:p.Ala1319Ser
XM_011538651.1:c.3955G>T XP_011536953.1:p.Ala1319Ser
NM_001330260.1:c.3955G>T VV NP_001317189.1:p.Ala1319Ser
XM_006719556.4:c.3955G>T XP_006719619.1:p.Ala1319Ser
XM_011538651.3:c.3955G>T XP_011536953.1:p.Ala1319Ser
XM_017019794.2:c.3955G>T XP_016875283.1:p.Ala1319Ser
XM_017019795.2:c.3832G>T XP_016875284.1:p.Ala1278Ser
XM_017019796.1:c.*53G>T XP_016875285.1:p.=
NM_001330260.2:c.3955G>T VV MANE Preferred NP_001317189.1:p.Ala1319Ser
NM_001369788.1:c.3832G>T VV NP_001356717.1:p.Ala1278Ser
NM_014191.4:c.3955G>T VV NP_055006.1:p.Ala1319Ser
NM_001177984.3:c.3832G>T VV NP_001171455.1:p.Ala1278Ser
ENST00000354534.10:c.3955G>T ENSP00000346534.4:p.Ala1319Ser
ENST00000355133.7:n.3832G>T ENSP00000347255.4:p.Ala1278Ser
ENST00000545061.5:c.3832G>T ENSP00000440360.1:p.Ala1278Ser
ENST00000548086.1:n.206G>T
ENST00000599343.5:n.3988G>T ENSP00000476447.3:p.Ala1330Ser
ENST00000627620.2:n.3955G>T ENSP00000487583.1:p.Ala1319Ser