LDH info

Canonical Allele Identifier: CA279886
Gene: BCKDHA HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 204379
ClinVar RCV Id: RCV000202366
dbSNP Id: rs863225262

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41424468A>T , CM000681.2:g.41424468A>T GRCh38
NC_000019.9:g.41930373A>T , CM000681.1:g.41930373A>T GRCh37
NC_000019.8:g.46622213A>T NCBI36
NG_013004.1:g.31680A>T

Transcript Alleles

HGVS Amino-acid change
NM_000709.3:c.1198A>T VV NP_000700.1:p.Lys400Ter
NM_001164783.1:c.1195A>T VV NP_001158255.1:p.Lys399Ter
NM_000709.4:c.1198A>T VV MANE Preferred NP_000700.1:p.Lys400Ter
ENST00000269980.6:c.1198A>T ENSP00000269980.2:p.Lys400Ter
ENST00000457836.6:c.1207A>T ENSP00000416000.2:p.Lys403Ter
ENST00000540732.3:c.1300A>T ENSP00000443246.1:p.Lys434Ter
ENST00000544905.1:n.62-34A>T
ENST00000595085.5:c.922+1771A>T ENSP00000471150.2:p.=