LDH info

Canonical Allele Identifier: CA344981
Gene: CPT1A HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 65652
ClinVar RCV Id: RCV000055865
dbSNP Id: rs397515544

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68759648C>T , CM000673.2:g.68759648C>T GRCh38
NC_000011.9:g.68527116C>T , CM000673.1:g.68527116C>T GRCh37
NC_000011.8:g.68283692C>T NCBI36
NG_011801.1:g.87284G>A

Transcript Alleles

HGVS Amino-acid change
NM_001031847.2:c.2156G>A VV NP_001027017.1:p.Gly719Asp
NM_001876.3:c.2156G>A VV NP_001867.2:p.Gly719Asp
XM_005273762.1:c.2252G>A XP_005273819.1:p.Gly751Asp
XM_005273763.1:c.2252G>A XP_005273820.1:p.Gly751Asp
XM_005273762.3:c.2252G>A XP_005273819.1:p.Gly751Asp
XM_017017220.1:c.2156G>A XP_016872709.1:p.Gly719Asp
NM_001876.4:c.2156G>A VV MANE Preferred NP_001867.2:p.Gly719Asp
ENST00000265641.9:c.2156G>A ENSP00000265641.4:p.Gly719Asp
ENST00000376618.6:c.2156G>A ENSP00000365803.2:p.Gly719Asp
ENST00000539743.5:c.2156G>A ENSP00000446108.1:p.Gly719Asp
ENST00000540367.5:c.2156G>A ENSP00000439084.1:p.Gly719Asp