LDH info

Canonical Allele Identifier: CA303058
Gene: CPT1A HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 65655
dbSNP Id: rs2229738

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68794860C>T , CM000673.2:g.68794860C>T GRCh38
NC_000011.9:g.68562328C>T , CM000673.1:g.68562328C>T GRCh37
NC_000011.8:g.68318904C>T NCBI36
NG_011801.1:g.52072G>A

Transcript Alleles

HGVS Amino-acid change
NM_001031847.2:c.823G>A VV NP_001027017.1:p.Ala275Thr
NM_001876.3:c.823G>A VV NP_001867.2:p.Ala275Thr
XM_005273762.1:c.919G>A XP_005273819.1:p.Ala307Thr
XM_005273763.1:c.919G>A XP_005273820.1:p.Ala307Thr
XM_005273762.3:c.919G>A XP_005273819.1:p.Ala307Thr
XM_017017220.1:c.823G>A XP_016872709.1:p.Ala275Thr
NM_001876.4:c.823G>A VV MANE Preferred NP_001867.2:p.Ala275Thr
NM_001031847.3:c.823G>A VV NP_001027017.1:p.Ala275Thr
ENST00000265641.9:c.823G>A ENSP00000265641.4:p.Ala275Thr
ENST00000376618.6:c.823G>A ENSP00000365803.2:p.Ala275Thr
ENST00000538994.1:c.79G>A ENSP00000454332.1:p.Ala27Thr
ENST00000539743.5:c.823G>A ENSP00000446108.1:p.Ala275Thr
ENST00000540367.5:c.823G>A ENSP00000439084.1:p.Ala275Thr