Canonical Allele Identifier: CA406004896

Gene: BCKDHA

Linked Data

• MyVariant Identifiers: chr19:g.41916682C>A (hg19) ; chr19:g.41410777C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41410777C>A , CM000681.2:g.41410777C>A	GRCh38
NC_000019.9:g.41916682C>A , CM000681.1:g.41916682C>A	GRCh37
NC_000019.8:g.46608522C>A	NCBI36
NG_013004.1:g.17989C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.249C>A MANE Select	ENSP00000269980.2:p.Asp83Glu
ENST00000269980.6:c.249C>A	ENSP00000269980.2:p.Asp83Glu
ENST00000457836.6:c.183C>A	ENSP00000416000.2:p.Asp61Glu
ENST00000538423.5:n.269C>A
ENST00000540732.3:c.351C>A	ENSP00000443246.1:p.Asp117Glu
ENST00000541315.1:c.56C>A
ENST00000542943.5:c.249C>A	ENSP00000440345.1:p.Asp83Glu
ENST00000595085.5:c.249C>A	ENSP00000471150.2:p.Asp83Glu
ENST00000604424.1:n.491C>A
NM_000709.3:c.249C>A	NP_000700.1:p.Asp83Glu
NM_001164783.1:c.249C>A	NP_001158255.1:p.Asp83Glu
NM_000709.4:c.249C>A MANE Select	NP_000700.1:p.Asp83Glu
NM_001164783.2:c.249C>A	NP_001158255.1:p.Asp83Glu