LDH info

Canonical Allele Identifier: CA123814
Gene: NDUFS1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 14231
dbSNP Id: rs199422224

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.206145009T>C , CM000664.2:g.206145009T>C GRCh38
NC_000002.11:g.207009733T>C , CM000664.1:g.207009733T>C GRCh37
NC_000002.10:g.206717978T>C NCBI36
NG_009248.1:g.19455A>G

Transcript Alleles

HGVS Amino-acid change
NM_001199981.1:c.647A>G VV NP_001186910.1:p.Asp216Gly
NM_001199982.1:c.422A>G VV NP_001186911.1:p.Asp141Gly
NM_001199983.1:c.584A>G VV NP_001186912.1:p.Asp195Gly
NM_001199984.1:c.797A>G VV NP_001186913.1:p.Asp266Gly
NM_005006.6:c.755A>G VV NP_004997.4:p.Asp252Gly
XM_017004188.2:c.-5A>G XP_016859677.1:p.=
ENST00000233190.10:c.755A>G ENSP00000233190.5:p.Asp252Gly
ENST00000423725.5:c.584A>G ENSP00000397760.1:p.Asp195Gly
ENST00000432169.5:c.422A>G ENSP00000409689.1:p.Asp141Gly
ENST00000440274.5:c.647A>G ENSP00000409766.1:p.Asp216Gly
ENST00000449699.5:c.755A>G ENSP00000399912.1:p.Asp252Gly
ENST00000455934.6:c.797A>G ENSP00000392709.2:p.Asp266Gly
ENST00000457011.5:c.407A>G ENSP00000400976.1:p.Asp136Gly