Canonical Allele Identifier: CA406015900

Gene: BCKDHA

Linked Data

• MyVariant Identifiers: chr19:g.41930513A>G (hg19) ; chr19:g.41424608A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41424608A>G , CM000681.2:g.41424608A>G	GRCh38
NC_000019.9:g.41930513A>G , CM000681.1:g.41930513A>G	GRCh37
NC_000019.8:g.46622353A>G	NCBI36
NG_013004.1:g.31820A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.1338A>G MANE Select	ENSP00000269980.2:p.Ter446Trp
ENST00000269980.6:c.1338A>G	ENSP00000269980.2:p.Ter446Trp
ENST00000457836.6:c.1347A>G	ENSP00000416000.2:p.Ter449Trp
ENST00000540732.3:c.1440A>G	ENSP00000443246.1:p.Ter480Trp
ENST00000544905.1:c.168A>G
ENST00000595085.5:c.922+1911A>G	ENSP00000471150.2:n.922+1911A>G
NM_000709.3:c.1338A>G	NP_000700.1:p.Ter446Trp
NM_001164783.1:c.1335A>G	NP_001158255.1:p.Ter445Trp
NM_000709.4:c.1338A>G MANE Select	NP_000700.1:p.Ter446Trp
NM_001164783.2:c.1335A>G	NP_001158255.1:p.Ter445Trp