Canonical Allele Identifier: CA406015902

Gene: BCKDHA

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.1338A>T MANE Select	ENSP00000269980.2:p.Ter446Cys
ENST00000269980.6:c.1338A>T	ENSP00000269980.2:p.Ter446Cys
ENST00000457836.6:c.1347A>T	ENSP00000416000.2:p.Ter449Cys
ENST00000540732.3:c.1440A>T	ENSP00000443246.1:p.Ter480Cys
ENST00000544905.1:c.168A>T
ENST00000595085.5:c.922+1911A>T	ENSP00000471150.2:n.922+1911A>T
NM_000709.3:c.1338A>T	NP_000700.1:p.Ter446Cys
NM_001164783.1:c.1335A>T	NP_001158255.1:p.Ter445Cys
NM_000709.4:c.1338A>T MANE Select	NP_000700.1:p.Ter446Cys
NM_001164783.2:c.1335A>T	NP_001158255.1:p.Ter445Cys