LDH info

Canonical Allele Identifier: CA123150
Gene: POLG HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 13507
dbSNP Id: rs113994097

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89323426C>G , CM000677.2:g.89323426C>G GRCh38
NC_000015.9:g.89866657C>G , CM000677.1:g.89866657C>G GRCh37
NC_000015.8:g.87667661C>G NCBI36
NG_008218.1:g.16370G>C
NG_008218.2:g.16370G>C

Transcript Alleles

HGVS Amino-acid change
NM_001126131.1:c.2243G>C VV NP_001119603.1:p.Trp748Ser
NM_002693.2:c.2243G>C VV NP_002684.1:p.Trp748Ser
ENST00000268124.9:c.2243G>C ENSP00000268124.5:p.Trp748Ser
ENST00000442287.6:c.2243G>C ENSP00000399851.2:p.Trp748Ser
ENST00000526314.2:n.539+389G>C
ENST00000526398.1:n.392G>C
ENST00000528881.2:n.12G>C
ENST00000530715.5:n.2G>C
ENST00000532584.5:n.445G>C
ENST00000631044.2:c.*1667G>C ENSP00000486730.1:p.=