LDH info

Canonical Allele Identifier: CA114323
Gene: PTS HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 484
ClinVar RCV Id: RCV000000513
dbSNP Id: rs104894280

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.112233205G>A , CM000673.2:g.112233205G>A GRCh38
NC_000011.9:g.112103928G>A , CM000673.1:g.112103928G>A GRCh37
NC_000011.8:g.111609138G>A NCBI36
NG_008743.1:g.11841G>A

Transcript Alleles

HGVS Amino-acid change
NM_000317.2:c.286G>A VV NP_000308.1:p.Asp96Asn
XM_011542943.1:c.247G>A XP_011541245.1:p.Asp83Asn
NM_000317.3:c.286G>A VV MANE Preferred NP_000308.1:p.Asp96Asn
ENST00000280362.7:c.286G>A ENSP00000280362.3:p.Asp96Asn
ENST00000524931.1:c.82G>A ENSP00000434688.1:p.Asp28Asn
ENST00000525803.1:c.*20G>A ENSP00000431750.1:p.=
ENST00000527428.5:n.460G>A
ENST00000527635.1:n.327G>A
ENST00000528679.5:c.*95G>A ENSP00000435895.1:p.=
ENST00000531175.1:n.237G>A
ENST00000531673.5:c.*95G>A ENSP00000433469.1:p.=