LDH info

Canonical Allele Identifier: CA115507
Gene: BCKDHA HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 100009
dbSNP Id: rs137852870

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41424582T>A , CM000681.2:g.41424582T>A GRCh38
NC_000019.9:g.41930487T>A , CM000681.1:g.41930487T>A GRCh37
NC_000019.8:g.46622327T>A NCBI36
NG_013004.1:g.31794T>A

Transcript Alleles

HGVS Amino-acid change
NM_000709.3:c.1312T>A VV NP_000700.1:p.Tyr438Asn
NM_001164783.1:c.1309T>A VV NP_001158255.1:p.Tyr437Asn
NM_000709.4:c.1312T>A VV MANE Preferred NP_000700.1:p.Tyr438Asn
ENST00000269980.6:c.1312T>A ENSP00000269980.2:p.Tyr438Asn
ENST00000457836.6:c.1321T>A ENSP00000416000.2:p.Tyr441Asn
ENST00000540732.3:c.1414T>A ENSP00000443246.1:p.Tyr472Asn
ENST00000544905.1:n.142T>A
ENST00000595085.5:c.922+1885T>A ENSP00000471150.2:p.=