Canonical Allele Identifier: CA507690535

Gene: BCKDHA

Linked Data

• MyVariant Identifiers: chr19:g.41928172C>T (hg19)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000269980.7:c.750C>T MANE Select	ENSP00000269980.2:p.Phe250=
ENST00000269980.6:c.750C>T	ENSP00000269980.2:p.Phe250=
ENST00000457836.6:c.684C>T	ENSP00000416000.2:p.Phe228=
ENST00000535632.5:n.379C>T
ENST00000540732.3:c.852C>T	ENSP00000443246.1:p.Phe284=
ENST00000542943.5:c.663C>T	ENSP00000440345.1:p.Phe221=
ENST00000545787.1:n.378C>T
ENST00000595085.5:c.750C>T	ENSP00000471150.2:p.Phe250=
NM_000709.3:c.750C>T	NP_000700.1:p.Phe250=
NM_001164783.1:c.750C>T	NP_001158255.1:p.Phe250=
NM_000709.4:c.750C>T MANE Select	NP_000700.1:p.Phe250=
NM_001164783.2:c.750C>T	NP_001158255.1:p.Phe250=