LDH info

Canonical Allele Identifier: CA115518
Gene: BCKDHA HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 2381
dbSNP Id: rs137852875

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41422704C>G , CM000681.2:g.41422704C>G GRCh38
NC_000019.9:g.41928609C>G , CM000681.1:g.41928609C>G GRCh37
NC_000019.8:g.46620449C>G NCBI36
NG_013004.1:g.29916C>G

Transcript Alleles

HGVS Amino-acid change
NM_000709.3:c.929C>G VV NP_000700.1:p.Thr310Arg
NM_001164783.1:c.926C>G VV NP_001158255.1:p.Thr309Arg
NM_000709.4:c.929C>G VV MANE Preferred NP_000700.1:p.Thr310Arg
ENST00000269980.6:c.929C>G ENSP00000269980.2:p.Thr310Arg
ENST00000457836.6:c.863C>G ENSP00000416000.2:p.Thr288Arg
ENST00000535632.5:n.558C>G
ENST00000540732.3:c.1031C>G ENSP00000443246.1:p.Thr344Arg
ENST00000542943.5:c.842C>G ENSP00000440345.1:p.Thr281Arg
ENST00000545787.1:n.557C>G
ENST00000595085.5:c.922+7C>G ENSP00000471150.2:p.=