LDH info

Canonical Allele Identifier: CA284913
Gene: SCN1A HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 68524
dbSNP Id: rs121917972

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.166037873C>T , CM000664.2:g.166037873C>T GRCh38
NC_000002.11:g.166894383C>T , CM000664.1:g.166894383C>T GRCh37
NC_000002.10:g.166602629C>T NCBI36
NG_011906.1:g.40767G>A , LRG_8:g.40767G>A

Transcript Alleles

HGVS Amino-acid change
NM_001165963.1:c.2849G>A VV NP_001159435.1:p.Gly950Glu
NM_001165964.1:c.2765G>A VV NP_001159436.1:p.Gly922Glu
NM_001202435.1:c.2849G>A VV NP_001189364.1:p.Gly950Glu
NM_006920.4:c.2816G>A , LRG_8t1:c.2816G>A NP_008851.3:p.Gly939Glu
XM_011511598.1:c.2849G>A XP_011509900.1:p.Gly950Glu
XM_011511599.1:c.2849G>A XP_011509901.1:p.Gly950Glu
XM_011511600.1:c.2849G>A XP_011509902.1:p.Gly950Glu
XM_011511601.1:c.2849G>A XP_011509903.1:p.Gly950Glu
XM_011511602.1:c.2849G>A XP_011509904.1:p.Gly950Glu
XM_011511603.1:c.2846G>A XP_011509905.1:p.Gly949Glu
XM_011511604.1:c.2816G>A XP_011509906.1:p.Gly939Glu
XM_011511605.1:c.2813G>A XP_011509907.1:p.Gly938Glu
XM_011511606.1:c.2765G>A XP_011509908.1:p.Gly922Glu
XM_011511607.1:c.2849G>A XP_011509909.1:p.Gly950Glu
XR_922981.1:n.3033G>A
NM_001165963.2:c.2849G>A VV NP_001159435.1:p.Gly950Glu
NM_001165964.2:c.2765G>A VV NP_001159436.1:p.Gly922Glu
NM_001202435.2:c.2849G>A VV NP_001189364.1:p.Gly950Glu
NM_001353948.1:c.2849G>A VV NP_001340877.1:p.Gly950Glu
NM_001353949.1:c.2816G>A VV NP_001340878.1:p.Gly939Glu
NM_001353950.1:c.2816G>A VV NP_001340879.1:p.Gly939Glu
NM_001353951.1:c.2816G>A VV NP_001340880.1:p.Gly939Glu
NM_001353952.1:c.2816G>A VV NP_001340881.1:p.Gly939Glu
NM_001353954.1:c.2813G>A VV NP_001340883.1:p.Gly938Glu
NM_001353955.1:c.2813G>A VV NP_001340884.1:p.Gly938Glu
NM_001353957.1:c.2765G>A VV NP_001340886.1:p.Gly922Glu
NM_001353958.1:c.2765G>A VV NP_001340887.1:p.Gly922Glu
NM_001353960.1:c.2762G>A VV NP_001340889.1:p.Gly921Glu
NM_001353961.1:c.407G>A VV NP_001340890.1:p.Gly136Glu
NM_006920.5:c.2816G>A VV NP_008851.3:p.Gly939Glu
NR_148667.1:n.3221G>A
XR_001738883.1:n.3235G>A
XR_001738884.1:n.3207G>A
ENST00000303395.8:c.2849G>A ENSP00000303540.4:p.Gly950Glu
ENST00000375405.7:c.2816G>A ENSP00000364554.3:p.Gly939Glu
ENST00000409050.1:n.2765G>A ENSP00000386312.1:p.Gly922Glu
ENST00000423058.6:c.2849G>A ENSP00000407030.2:p.Gly950Glu