Canonical Allele Identifier: CA507560663

Gene: BCKDHA

Linked Data

• MyVariant Identifiers: chr19:g.41930375G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41424470G>A , CM000681.2:g.41424470G>A	GRCh38
NC_000019.9:g.41930375G>A , CM000681.1:g.41930375G>A	GRCh37
NC_000019.8:g.46622215G>A	NCBI36
NG_013004.1:g.31682G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.1200G>A MANE Select	ENSP00000269980.2:p.Lys400=
ENST00000269980.6:c.1200G>A	ENSP00000269980.2:p.Lys400=
ENST00000457836.6:c.1209G>A	ENSP00000416000.2:p.Lys403=
ENST00000540732.3:c.1302G>A	ENSP00000443246.1:p.Lys434=
ENST00000544905.1:c.62-32G>A
ENST00000595085.5:c.922+1773G>A	ENSP00000471150.2:n.922+1773G>A
NM_000709.3:c.1200G>A	NP_000700.1:p.Lys400=
NM_001164783.1:c.1197G>A	NP_001158255.1:p.Lys399=
NM_000709.4:c.1200G>A MANE Select	NP_000700.1:p.Lys400=
NM_001164783.2:c.1197G>A	NP_001158255.1:p.Lys399=