LDH info

Canonical Allele Identifier: CA256192
Gene: G6PC HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 12010
ClinVar RCV Id: RCV000012790
dbSNP Id: rs104894571

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42909353T>G , CM000679.2:g.42909353T>G GRCh38
NC_000017.10:g.41061370T>G , CM000679.1:g.41061370T>G GRCh37
NC_000017.9:g.38314896T>G NCBI36
NG_011808.1:g.13556T>G , LRG_147:g.13556T>G

Transcript Alleles

HGVS Amino-acid change
NM_000151.3:c.497T>G VV NP_000142.2:p.Val166Gly
NM_001270397.1:c.420T>G VV NP_001257326.1:p.Cys140Trp
NM_000151.4:c.497T>G VV NP_000142.2:p.Val166Gly
NM_001270397.2:c.420T>G VV NP_001257326.1:p.Cys140Trp
ENST00000253801.6:c.497T>G ENSP00000253801.1:p.Val166Gly
ENST00000585489.1:c.447-1562T>G ENSP00000466202.1:p.=
ENST00000592383.5:c.420T>G ENSP00000465958.1:p.Cys140Trp