Canonical Allele Identifier: CA406015205

Gene: BCKDHA

Linked Data

• MyVariant Identifiers: chr19:g.41930356T>G (hg19) ; chr19:g.41424451T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41424451T>G , CM000681.2:g.41424451T>G	GRCh38
NC_000019.9:g.41930356T>G , CM000681.1:g.41930356T>G	GRCh37
NC_000019.8:g.46622196T>G	NCBI36
NG_013004.1:g.31663T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.1181T>G MANE Select	ENSP00000269980.2:p.Phe394Cys
ENST00000269980.6:c.1181T>G	ENSP00000269980.2:p.Phe394Cys
ENST00000457836.6:c.1190T>G	ENSP00000416000.2:p.Phe397Cys
ENST00000540732.3:c.1283T>G	ENSP00000443246.1:p.Phe428Cys
ENST00000544905.1:c.62-51T>G
ENST00000595085.5:c.922+1754T>G	ENSP00000471150.2:n.922+1754T>G
NM_000709.3:c.1181T>G	NP_000700.1:p.Phe394Cys
NM_001164783.1:c.1178T>G	NP_001158255.1:p.Phe393Cys
NM_000709.4:c.1181T>G MANE Select	NP_000700.1:p.Phe394Cys
NM_001164783.2:c.1178T>G	NP_001158255.1:p.Phe393Cys