LDH info

Canonical Allele Identifier: CA114321
Gene: PTS HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 482
ClinVar RCV Id: RCV000000511
dbSNP Id: rs104894278

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.112228649A>G , CM000673.2:g.112228649A>G GRCh38
NC_000011.9:g.112099372A>G , CM000673.1:g.112099372A>G GRCh37
NC_000011.8:g.111604582A>G NCBI36
NG_008743.1:g.7285A>G

Transcript Alleles

HGVS Amino-acid change
NM_000317.2:c.139A>G VV NP_000308.1:p.Asn47Asp
NM_000317.3:c.139A>G VV MANE Preferred NP_000308.1:p.Asn47Asp
ENST00000280362.7:c.139A>G ENSP00000280362.3:p.Asn47Asp
ENST00000524931.1:c.-66A>G ENSP00000434688.1:p.=
ENST00000525645.1:n.214A>G
ENST00000525803.1:c.139A>G ENSP00000431750.1:p.Asn47Asp
ENST00000528679.5:c.139A>G ENSP00000435895.1:p.Asn47Asp
ENST00000531673.5:c.139A>G ENSP00000433469.1:p.Asn47Asp