LDH info

Canonical Allele Identifier: CA318298
Gene: SCN8A HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 207130
dbSNP Id: rs796053227

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.51807041C>T , CM000674.2:g.51807041C>T GRCh38
NC_000012.11:g.52200825C>T , CM000674.1:g.52200825C>T GRCh37
NC_000012.10:g.50487092C>T NCBI36
NG_021180.2:g.220806C>T
NG_021180.3:g.222084C>T

Transcript Alleles

HGVS Amino-acid change
NM_001177984.2:c.5432C>T VV NP_001171455.1:p.Thr1811Ile
NM_014191.3:c.5555C>T VV NP_055006.1:p.Thr1852Ile
XM_006719556.2:c.5555C>T XP_006719619.1:p.Thr1852Ile
XM_011538650.1:c.5555C>T XP_011536952.1:p.Thr1852Ile
XM_011538651.1:c.5555C>T XP_011536953.1:p.Thr1852Ile
NM_001330260.1:c.5555C>T VV NP_001317189.1:p.Thr1852Ile
XM_006719556.4:c.5555C>T XP_006719619.1:p.Thr1852Ile
XM_011538651.3:c.5555C>T XP_011536953.1:p.Thr1852Ile
XM_017019794.2:c.5555C>T XP_016875283.1:p.Thr1852Ile
XM_017019795.2:c.5432C>T XP_016875284.1:p.Thr1811Ile
NM_001330260.2:c.5555C>T VV MANE Preferred NP_001317189.1:p.Thr1852Ile
NM_001369788.1:c.5432C>T VV NP_001356717.1:p.Thr1811Ile
NM_014191.4:c.5555C>T VV NP_055006.1:p.Thr1852Ile
NM_001177984.3:c.5432C>T VV NP_001171455.1:p.Thr1811Ile
ENST00000354534.10:c.5555C>T ENSP00000346534.4:p.Thr1852Ile
ENST00000355133.7:n.5432C>T ENSP00000347255.4:p.Thr1811Ile
ENST00000545061.5:c.5432C>T ENSP00000440360.1:p.Thr1811Ile
ENST00000599343.5:n.5588C>T ENSP00000476447.3:p.Thr1863Ile
ENST00000627620.2:n.5555C>T ENSP00000487583.1:p.Thr1852Ile