LDH info

Canonical Allele Identifier: CA019964
Gene: SCN5A HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 68062
ClinVar RCV Id: RCV000058866
dbSNP Id: rs199473092

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.38608175A>C , CM000665.2:g.38608175A>C GRCh38
NC_000003.11:g.38649666A>C , CM000665.1:g.38649666A>C GRCh37
NC_000003.10:g.38624670A>C NCBI36
NG_008934.1:g.46498T>G , LRG_289:g.46498T>G

Transcript Alleles

HGVS Amino-acid change
NM_000335.4:c.974T>G , LRG_289t2:c.974T>G NP_000326.2:p.Leu325Arg
NM_001099404.1:c.974T>G , LRG_289t3:c.974T>G NP_001092874.1:p.Leu325Arg
NM_001099405.1:c.974T>G VV NP_001092875.1:p.Leu325Arg
NM_001160160.1:c.974T>G VV NP_001153632.1:p.Leu325Arg
NM_001160161.1:c.974T>G VV NP_001153633.1:p.Leu325Arg
NM_198056.2:c.974T>G , LRG_289t1:c.974T>G NP_932173.1:p.Leu325Arg
XM_006713282.2:c.974T>G XP_006713345.1:p.Leu325Arg
XM_011533991.1:c.974T>G XP_011532293.1:p.Leu325Arg
XM_011533992.1:c.845T>G XP_011532294.1:p.Leu282Arg
NM_001354701.1:c.974T>G VV NP_001341630.1:p.Leu325Arg
XM_011533991.2:c.974T>G XP_011532293.1:p.Leu325Arg
XM_017007017.1:c.974T>G XP_016862506.1:p.Leu325Arg
ENST00000333535.8:c.974T>G ENSP00000328968.4:p.Leu325Arg
ENST00000413689.5:c.974T>G ENSP00000410257.1:p.Leu325Arg
ENST00000414099.6:c.974T>G ENSP00000398962.2:p.Leu325Arg
ENST00000423572.6:c.974T>G ENSP00000398266.2:p.Leu325Arg
ENST00000425664.5:c.974T>G ENSP00000416634.1:p.Leu325Arg
ENST00000449557.6:c.974T>G ENSP00000413996.2:p.Leu325Arg
ENST00000450102.6:c.974T>G ENSP00000403355.2:p.Leu325Arg
ENST00000451551.6:c.974T>G ENSP00000388797.2:p.Leu325Arg
ENST00000455624.6:c.974T>G ENSP00000399524.2:p.Leu325Arg