LDH info

Canonical Allele Identifier: CA13687633
Gene: SCN8A HGNC NCBI

Identifiers and link-outs to other resources

dbSNP Id: rs1601012

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.51685722A>C , CM000674.2:g.51685722A>C GRCh38
NC_000012.11:g.52079506A>C , CM000674.1:g.52079506A>C GRCh37
NC_000012.10:g.50365773A>C NCBI36
NG_021180.2:g.99487A>C
NG_021180.3:g.100765A>C

Transcript Alleles

HGVS Amino-acid change
NM_001177984.2:c.396-646A>C VV NP_001171455.1:p.=
NM_014191.3:c.396-646A>C VV NP_055006.1:p.=
XM_006719556.2:c.396-646A>C XP_006719619.1:p.=
XM_011538650.1:c.396-646A>C XP_011536952.1:p.=
XM_011538651.1:c.396-646A>C XP_011536953.1:p.=
NM_001330260.1:c.396-646A>C VV NP_001317189.1:p.=
XM_006719556.4:c.396-646A>C XP_006719619.1:p.=
XM_011538651.3:c.396-646A>C XP_011536953.1:p.=
XM_017019794.2:c.396-646A>C XP_016875283.1:p.=
XM_017019795.2:c.396-646A>C XP_016875284.1:p.=
XM_017019796.1:c.396-646A>C XP_016875285.1:p.=
NM_001330260.2:c.396-646A>C VV MANE Preferred NP_001317189.1:p.=
NM_001369788.1:c.396-646A>C VV NP_001356717.1:p.=
NM_014191.4:c.396-646A>C VV NP_055006.1:p.=
NM_001177984.3:c.396-646A>C VV NP_001171455.1:p.=
ENST00000354534.10:c.396-646A>C ENSP00000346534.4:p.=
ENST00000355133.7:n.396-646A>C ENSP00000347255.4:p.=
ENST00000545061.5:c.396-646A>C ENSP00000440360.1:p.=
ENST00000550891.4:n.524-646A>C
ENST00000599343.5:n.396-646A>C ENSP00000476447.3:p.=
ENST00000627620.2:n.396-646A>C ENSP00000487583.1:p.=