Canonical Allele Identifier: CA406015740
Gene: BCKDHA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41424589T>A , CM000681.2:g.41424589T>A GRCh38
NC_000019.9:g.41930494T>A , CM000681.1:g.41930494T>A GRCh37
NC_000019.8:g.46622334T>A NCBI36
NG_013004.1:g.31801T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000269980.7:c.1319T>A MANE Select ENSP00000269980.2:p.Leu440Gln
ENST00000269980.6:c.1319T>A ENSP00000269980.2:p.Leu440Gln
ENST00000457836.6:c.1328T>A ENSP00000416000.2:p.Leu443Gln
ENST00000540732.3:c.1421T>A ENSP00000443246.1:p.Leu474Gln
ENST00000544905.1:c.149T>A
ENST00000595085.5:c.922+1892T>A ENSP00000471150.2:n.922+1892T>A
NM_000709.3:c.1319T>A NP_000700.1:p.Leu440Gln
NM_001164783.1:c.1316T>A NP_001158255.1:p.Leu439Gln
NM_000709.4:c.1319T>A MANE Select NP_000700.1:p.Leu440Gln
NM_001164783.2:c.1316T>A NP_001158255.1:p.Leu439Gln