LDH info

Canonical Allele Identifier: CA221229
Gene: BCKDHA HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 93380
ClinVar RCV Id: RCV000179778
dbSNP Id: rs398123512

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41422692del , CM000681.2:g.41422692del GRCh38
NC_000019.9:g.41928597del , CM000681.1:g.41928597del GRCh37
NC_000019.8:g.46620437del NCBI36
NG_013004.1:g.29904del

Transcript Alleles

HGVS Amino-acid change
NM_000709.3:c.917del VV NP_000700.1:p.Val306AspfsTer24
NM_001164783.1:c.914del VV NP_001158255.1:p.Val305AspfsTer24
NM_000709.4:c.917del VV MANE Preferred NP_000700.1:p.Val306AspfsTer24
ENST00000269980.6:c.917del ENSP00000269980.2:p.Val306AspfsTer24
ENST00000457836.6:c.851del ENSP00000416000.2:p.Val284AspfsTer24
ENST00000535632.5:n.546del
ENST00000540732.3:c.1019del ENSP00000443246.1:p.Val340AspfsTer24
ENST00000542943.5:c.830del ENSP00000440345.1:p.Val277AspfsTer24
ENST00000545787.1:n.545del
ENST00000595085.5:c.917del ENSP00000471150.2:p.Val306AspfsTer28