Canonical Allele Identifier: CA406012955
Gene: BCKDHA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41422306C>A , CM000681.2:g.41422306C>A GRCh38
NC_000019.9:g.41928211C>A , CM000681.1:g.41928211C>A GRCh37
NC_000019.8:g.46620051C>A NCBI36
NG_013004.1:g.29518C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000269980.7:c.789C>A MANE Select ENSP00000269980.2:p.Phe263Leu
ENST00000269980.6:c.789C>A ENSP00000269980.2:p.Phe263Leu
ENST00000457836.6:c.723C>A ENSP00000416000.2:p.Phe241Leu
ENST00000535632.5:n.418C>A
ENST00000540732.3:c.891C>A ENSP00000443246.1:p.Phe297Leu
ENST00000542943.5:c.702C>A ENSP00000440345.1:p.Phe234Leu
ENST00000545787.1:n.417C>A
ENST00000595085.5:c.789C>A ENSP00000471150.2:p.Phe263Leu
NM_000709.3:c.789C>A NP_000700.1:p.Phe263Leu
NM_001164783.1:c.789C>A NP_001158255.1:p.Phe263Leu
NM_000709.4:c.789C>A MANE Select NP_000700.1:p.Phe263Leu
NM_001164783.2:c.789C>A NP_001158255.1:p.Phe263Leu