Canonical Allele Identifier: CA406012701
Gene: BCKDHA HGNC NCBI

Linked Data

dbSNP Id: rs1440985394

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41422187A>G , CM000681.2:g.41422187A>G GRCh38
NC_000019.9:g.41928092A>G , CM000681.1:g.41928092A>G GRCh37
NC_000019.8:g.46619932A>G NCBI36
NG_013004.1:g.29399A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000269980.7:c.670A>G MANE Select ENSP00000269980.2:p.Lys224Glu
ENST00000269980.6:c.670A>G ENSP00000269980.2:p.Lys224Glu
ENST00000457836.6:c.604A>G ENSP00000416000.2:p.Lys202Glu
ENST00000535632.5:n.299A>G
ENST00000538423.5:n.796A>G
ENST00000540732.3:c.772A>G ENSP00000443246.1:p.Lys258Glu
ENST00000541315.1:c.570A>G
ENST00000542943.5:c.583A>G ENSP00000440345.1:p.Lys195Glu
ENST00000545787.1:n.298A>G
ENST00000595085.5:c.670A>G ENSP00000471150.2:p.Lys224Glu
NM_000709.3:c.670A>G NP_000700.1:p.Lys224Glu
NM_001164783.1:c.670A>G NP_001158255.1:p.Lys224Glu
NM_000709.4:c.670A>G MANE Select NP_000700.1:p.Lys224Glu
NM_001164783.2:c.670A>G NP_001158255.1:p.Lys224Glu