Canonical Allele Identifier: CA406013053

Gene: BCKDHA

Linked Data

• MyVariant Identifiers: chr19:g.41928255A>T (hg19) ; chr19:g.41422350A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422350A>T , CM000681.2:g.41422350A>T	GRCh38
NC_000019.9:g.41928255A>T , CM000681.1:g.41928255A>T	GRCh37
NC_000019.8:g.46620095A>T	NCBI36
NG_013004.1:g.29562A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.833A>T MANE Select	ENSP00000269980.2:p.Gln278Leu
ENST00000269980.6:c.833A>T	ENSP00000269980.2:p.Gln278Leu
ENST00000457836.6:c.767A>T	ENSP00000416000.2:p.Gln256Leu
ENST00000535632.5:n.462A>T
ENST00000540732.3:c.935A>T	ENSP00000443246.1:p.Gln312Leu
ENST00000542943.5:c.746A>T	ENSP00000440345.1:p.Gln249Leu
ENST00000545787.1:n.461A>T
ENST00000595085.5:c.833A>T	ENSP00000471150.2:p.Gln278Leu
NM_000709.3:c.833A>T	NP_000700.1:p.Gln278Leu
NM_001164783.1:c.833A>T	NP_001158255.1:p.Gln278Leu
NM_000709.4:c.833A>T MANE Select	NP_000700.1:p.Gln278Leu
NM_001164783.2:c.833A>T	NP_001158255.1:p.Gln278Leu