Canonical Allele Identifier: CA406004682
Gene: BCKDHA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41410709T>C , CM000681.2:g.41410709T>C GRCh38
NC_000019.9:g.41916614T>C , CM000681.1:g.41916614T>C GRCh37
NC_000019.8:g.46608454T>C NCBI36
NG_013004.1:g.17921T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000269980.7:c.181T>C MANE Select ENSP00000269980.2:p.Phe61Leu
ENST00000269980.6:c.181T>C ENSP00000269980.2:p.Phe61Leu
ENST00000457836.6:c.115T>C ENSP00000416000.2:p.Phe39Leu
ENST00000538423.5:n.201T>C
ENST00000540732.3:c.283T>C ENSP00000443246.1:p.Phe95Leu
ENST00000542943.5:c.181T>C ENSP00000440345.1:p.Phe61Leu
ENST00000595085.5:c.181T>C ENSP00000471150.2:p.Phe61Leu
ENST00000604424.1:n.423T>C
NM_000709.3:c.181T>C NP_000700.1:p.Phe61Leu
NM_001164783.1:c.181T>C NP_001158255.1:p.Phe61Leu
NM_000709.4:c.181T>C MANE Select NP_000700.1:p.Phe61Leu
NM_001164783.2:c.181T>C NP_001158255.1:p.Phe61Leu