Canonical Allele Identifier: CA406012868

Gene: BCKDHA

Linked Data

• COSMIC: COSM439592
• MyVariant Identifiers: chr19:g.41928172C>A (hg19) ; chr19:g.41422267C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422267C>A , CM000681.2:g.41422267C>A	GRCh38
NC_000019.9:g.41928172C>A , CM000681.1:g.41928172C>A	GRCh37
NC_000019.8:g.46620012C>A	NCBI36
NG_013004.1:g.29479C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000269980.7:c.750C>A MANE Select	ENSP00000269980.2:p.Phe250Leu
ENST00000269980.6:c.750C>A	ENSP00000269980.2:p.Phe250Leu
ENST00000457836.6:c.684C>A	ENSP00000416000.2:p.Phe228Leu
ENST00000535632.5:n.379C>A
ENST00000540732.3:c.852C>A	ENSP00000443246.1:p.Phe284Leu
ENST00000542943.5:c.663C>A	ENSP00000440345.1:p.Phe221Leu
ENST00000545787.1:n.378C>A
ENST00000595085.5:c.750C>A	ENSP00000471150.2:p.Phe250Leu
NM_000709.3:c.750C>A	NP_000700.1:p.Phe250Leu
NM_001164783.1:c.750C>A	NP_001158255.1:p.Phe250Leu
NM_000709.4:c.750C>A MANE Select	NP_000700.1:p.Phe250Leu
NM_001164783.2:c.750C>A	NP_001158255.1:p.Phe250Leu