LDH info

Canonical Allele Identifier: CA275072
Gene: BCKDHA HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 93351
dbSNP Id: rs398123496

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41410817G>A , CM000681.2:g.41410817G>A GRCh38
NC_000019.9:g.41916722G>A , CM000681.1:g.41916722G>A GRCh37
NC_000019.8:g.46608562G>A NCBI36
NG_013004.1:g.18029G>A

Transcript Alleles

HGVS Amino-acid change
NM_000709.3:c.288+1G>A VV NP_000700.1:p.=
NM_001164783.1:c.288+1G>A VV NP_001158255.1:p.=
NM_000709.4:c.288+1G>A VV MANE Preferred NP_000700.1:p.=
NM_001164783.2:c.288+1G>A VV NP_001158255.1:p.=
ENST00000269980.6:c.288+1G>A ENSP00000269980.2:p.=
ENST00000457836.6:c.222+1G>A ENSP00000416000.2:p.=
ENST00000538423.5:n.309G>A
ENST00000540732.3:c.390+1G>A ENSP00000443246.1:p.=
ENST00000541315.1:n.95+1G>A
ENST00000542943.5:c.288+1G>A ENSP00000440345.1:p.=
ENST00000595085.5:c.288+1G>A ENSP00000471150.2:p.=
ENST00000604424.1:n.531G>A