LDH info

Canonical Allele Identifier: CA114328
Gene: QDPR HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 495
ClinVar RCV Id: RCV000000524
dbSNP Id: rs104893867

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.17504404C>T , CM000666.2:g.17504404C>T GRCh38
NC_000004.11:g.17506027C>T , CM000666.1:g.17506027C>T GRCh37
NC_000004.10:g.17115125C>T NCBI36
NG_008763.1:g.12831G>A

Transcript Alleles

HGVS Amino-acid change
NM_000320.2:c.270G>A VV NP_000311.2:p.Trp90Ter
NM_001306140.1:c.177G>A VV NP_001293069.1:p.Trp59Ter
XR_241677.1:n.433G>A
NR_156494.1:n.450G>A
NM_000320.3:c.270G>A VV MANE Preferred NP_000311.2:p.Trp90Ter
ENST00000281243.9:c.270G>A ENSP00000281243.5:p.Trp90Ter
ENST00000428702.6:c.177G>A ENSP00000390944.2:p.Trp59Ter
ENST00000505710.1:n.197G>A
ENST00000507439.5:c.270G>A ENSP00000423227.1:p.Trp90Ter
ENST00000508623.5:c.270G>A ENSP00000426377.1:p.Trp90Ter
ENST00000513615.5:c.270G>A ENSP00000422759.1:p.Trp90Ter
ENST00000514300.1:c.*201G>A ENSP00000426039.1:p.=