LDH info

Canonical Allele Identifier: CA256181
Gene: G6PC HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 12001
ClinVar RCV Id: RCV000012781
dbSNP Id: rs104894566

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42901105T>C , CM000679.2:g.42901105T>C GRCh38
NC_000017.10:g.41053122T>C , CM000679.1:g.41053122T>C GRCh37
NC_000017.9:g.38306648T>C NCBI36
NG_011808.1:g.5308T>C , LRG_147:g.5308T>C

Transcript Alleles

HGVS Amino-acid change
NM_000151.3:c.229T>C VV NP_000142.2:p.Trp77Arg
NM_001270397.1:c.229T>C VV NP_001257326.1:p.Trp77Arg
ENST00000253801.6:c.229T>C ENSP00000253801.1:p.Trp77Arg
ENST00000585489.1:c.229T>C ENSP00000466202.1:p.Trp77Arg
ENST00000588481.1:n.294T>C
ENST00000592383.5:c.229T>C ENSP00000465958.1:p.Trp77Arg