Canonical Allele Identifier: CA406015366
Gene: BCKDHA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41424495T>C , CM000681.2:g.41424495T>C GRCh38
NC_000019.9:g.41930400T>C , CM000681.1:g.41930400T>C GRCh37
NC_000019.8:g.46622240T>C NCBI36
NG_013004.1:g.31707T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000269980.7:c.1225T>C MANE Select ENSP00000269980.2:p.Phe409Leu
ENST00000269980.6:c.1225T>C ENSP00000269980.2:p.Phe409Leu
ENST00000457836.6:c.1234T>C ENSP00000416000.2:p.Phe412Leu
ENST00000540732.3:c.1327T>C ENSP00000443246.1:p.Phe443Leu
ENST00000544905.1:c.62-7T>C
ENST00000595085.5:c.922+1798T>C ENSP00000471150.2:n.922+1798T>C
NM_000709.3:c.1225T>C NP_000700.1:p.Phe409Leu
NM_001164783.1:c.1222T>C NP_001158255.1:p.Phe408Leu
NM_000709.4:c.1225T>C MANE Select NP_000700.1:p.Phe409Leu
NM_001164783.2:c.1222T>C NP_001158255.1:p.Phe408Leu