Canonical Allele Identifier: CA406012865

Gene: BCKDHA

Linked Data

• MyVariant Identifiers: chr19:g.41928171T>A (hg19) ; chr19:g.41422266T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422266T>A , CM000681.2:g.41422266T>A	GRCh38
NC_000019.9:g.41928171T>A , CM000681.1:g.41928171T>A	GRCh37
NC_000019.8:g.46620011T>A	NCBI36
NG_013004.1:g.29478T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.749T>A MANE Select	ENSP00000269980.2:p.Phe250Tyr
ENST00000269980.6:c.749T>A	ENSP00000269980.2:p.Phe250Tyr
ENST00000457836.6:c.683T>A	ENSP00000416000.2:p.Phe228Tyr
ENST00000535632.5:n.378T>A
ENST00000540732.3:c.851T>A	ENSP00000443246.1:p.Phe284Tyr
ENST00000542943.5:c.662T>A	ENSP00000440345.1:p.Phe221Tyr
ENST00000545787.1:n.377T>A
ENST00000595085.5:c.749T>A	ENSP00000471150.2:p.Phe250Tyr
NM_000709.3:c.749T>A	NP_000700.1:p.Phe250Tyr
NM_001164783.1:c.749T>A	NP_001158255.1:p.Phe250Tyr
NM_000709.4:c.749T>A MANE Select	NP_000700.1:p.Phe250Tyr
NM_001164783.2:c.749T>A	NP_001158255.1:p.Phe250Tyr