LDH info

Canonical Allele Identifier: CA119577

Identifiers and link-outs to other resources

ClinVar Variation Id: 8392
ClinVar RCV Id: RCV000008900
dbSNP Id: rs121909349

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.35434297A>C , CM000682.2:g.35434297A>C GRCh38
NC_000020.10:g.34022095A>C , CM000682.1:g.34022095A>C GRCh37
NC_000020.9:g.33485509A>C NCBI36
NG_008076.2:g.8923T>G
NG_008076.3:g.25450T>G

Transcript Alleles

HGVS Amino-acid change
NM_000557.4:c.1118T>G (GDF5) VV NP_000548.2:p.Leu373Arg
XM_011529075.1:c.1118T>G (GDF5) XP_011527377.1:p.Leu373Arg
XM_011529076.1:c.1118T>G (GDF5) XP_011527378.1:p.Leu373Arg
NM_001319138.1:c.1118T>G (GDF5) VV NP_001306067.1:p.Leu373Arg
NM_001355428.1:c.139A>C (GDF5OS) VV NP_001342357.1:p.Arg47=
NM_000557.5:c.1118T>G (GDF5) VV NP_000548.2:p.Leu373Arg
NM_001319138.2:c.1118T>G (GDF5) VV NP_001306067.1:p.Leu373Arg
NR_161326.1:n.581A>C (GDF5OS)
ENST00000374369.7:c.1118T>G ENSP00000363489.3:p.Leu373Arg
ENST00000374372.1:c.1118T>G ENSP00000363492.1:p.Leu373Arg
ENST00000374375.1:c.139A>C ENSP00000363495.1:p.Arg47=