Canonical Allele Identifier: CA406005247

Gene: BCKDHA

Linked Data

• MyVariant Identifiers: chr19:g.41916828C>G (hg19) ; chr19:g.41410923C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41410923C>G , CM000681.2:g.41410923C>G	GRCh38
NC_000019.9:g.41916828C>G , CM000681.1:g.41916828C>G	GRCh37
NC_000019.8:g.46608668C>G	NCBI36
NG_013004.1:g.18135C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.289C>G MANE Select	ENSP00000269980.2:p.Leu97Val
ENST00000269980.6:c.289C>G	ENSP00000269980.2:p.Leu97Val
ENST00000457836.6:c.223C>G	ENSP00000416000.2:p.Leu75Val
ENST00000538423.5:n.415C>G
ENST00000540732.3:c.391C>G	ENSP00000443246.1:p.Leu131Val
ENST00000541315.1:c.96C>G
ENST00000542943.5:c.288+107C>G	ENSP00000440345.1:n.288+107C>G
ENST00000595085.5:c.289C>G	ENSP00000471150.2:p.Leu97Val
NM_000709.3:c.289C>G	NP_000700.1:p.Leu97Val
NM_001164783.1:c.289C>G	NP_001158255.1:p.Leu97Val
NM_000709.4:c.289C>G MANE Select	NP_000700.1:p.Leu97Val
NM_001164783.2:c.289C>G	NP_001158255.1:p.Leu97Val