LDH info

Canonical Allele Identifier: CA285015
Gene: SCN1A HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 68568
dbSNP Id: rs121917951

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.165991957G>A , CM000664.2:g.165991957G>A GRCh38
NC_000002.11:g.166848467G>A , CM000664.1:g.166848467G>A GRCh37
NC_000002.10:g.166556713G>A NCBI36
NG_011906.1:g.86683C>T , LRG_8:g.86683C>T

Transcript Alleles

HGVS Amino-acid change
NM_001165963.1:c.5318C>T VV NP_001159435.1:p.Ser1773Phe
NM_001165964.1:c.5234C>T VV NP_001159436.1:p.Ser1745Phe
NM_001202435.1:c.5318C>T VV NP_001189364.1:p.Ser1773Phe
NM_006920.4:c.5285C>T , LRG_8t1:c.5285C>T NP_008851.3:p.Ser1762Phe
NR_110598.1:n.176-23656G>A
XM_011511598.1:c.5318C>T XP_011509900.1:p.Ser1773Phe
XM_011511599.1:c.5318C>T XP_011509901.1:p.Ser1773Phe
XM_011511600.1:c.5318C>T XP_011509902.1:p.Ser1773Phe
XM_011511601.1:c.5318C>T XP_011509903.1:p.Ser1773Phe
XM_011511602.1:c.5318C>T XP_011509904.1:p.Ser1773Phe
XM_011511603.1:c.5315C>T XP_011509905.1:p.Ser1772Phe
XM_011511604.1:c.5285C>T XP_011509906.1:p.Ser1762Phe
XM_011511605.1:c.5282C>T XP_011509907.1:p.Ser1761Phe
XM_011511606.1:c.5234C>T XP_011509908.1:p.Ser1745Phe
XM_011511607.1:c.5036C>T XP_011509909.1:p.Ser1679Phe
NM_001165963.2:c.5318C>T VV NP_001159435.1:p.Ser1773Phe
NM_001165964.2:c.5234C>T VV NP_001159436.1:p.Ser1745Phe
NM_001202435.2:c.5318C>T VV NP_001189364.1:p.Ser1773Phe
NM_001353948.1:c.5318C>T VV NP_001340877.1:p.Ser1773Phe
NM_001353949.1:c.5285C>T VV NP_001340878.1:p.Ser1762Phe
NM_001353950.1:c.5285C>T VV NP_001340879.1:p.Ser1762Phe
NM_001353951.1:c.5285C>T VV NP_001340880.1:p.Ser1762Phe
NM_001353952.1:c.5285C>T VV NP_001340881.1:p.Ser1762Phe
NM_001353954.1:c.5282C>T VV NP_001340883.1:p.Ser1761Phe
NM_001353955.1:c.5282C>T VV NP_001340884.1:p.Ser1761Phe
NM_001353957.1:c.5234C>T VV NP_001340886.1:p.Ser1745Phe
NM_001353958.1:c.5234C>T VV NP_001340887.1:p.Ser1745Phe
NM_001353960.1:c.5231C>T VV NP_001340889.1:p.Ser1744Phe
NM_001353961.1:c.2876C>T VV NP_001340890.1:p.Ser959Phe
NM_006920.5:c.5285C>T VV NP_008851.3:p.Ser1762Phe
NR_148667.1:n.5754C>T
XR_001738883.1:n.5768C>T
XR_001738884.1:n.5740C>T
ENST00000303395.8:c.5318C>T ENSP00000303540.4:p.Ser1773Phe
ENST00000375405.7:c.5285C>T ENSP00000364554.3:p.Ser1762Phe
ENST00000409050.1:n.5234C>T ENSP00000386312.1:p.Ser1745Phe
ENST00000423058.6:c.5318C>T ENSP00000407030.2:p.Ser1773Phe