Canonical Allele Identifier: CA406015849

Gene: BCKDHA

Linked Data

• MyVariant Identifiers: chr19:g.41930507T>A (hg19) ; chr19:g.41424602T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41424602T>A , CM000681.2:g.41424602T>A	GRCh38
NC_000019.9:g.41930507T>A , CM000681.1:g.41930507T>A	GRCh37
NC_000019.8:g.46622347T>A	NCBI36
NG_013004.1:g.31814T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.1332T>A MANE Select	ENSP00000269980.2:p.Asp444Glu
ENST00000269980.6:c.1332T>A	ENSP00000269980.2:p.Asp444Glu
ENST00000457836.6:c.1341T>A	ENSP00000416000.2:p.Asp447Glu
ENST00000540732.3:c.1434T>A	ENSP00000443246.1:p.Asp478Glu
ENST00000544905.1:c.162T>A
ENST00000595085.5:c.922+1905T>A	ENSP00000471150.2:n.922+1905T>A
NM_000709.3:c.1332T>A	NP_000700.1:p.Asp444Glu
NM_001164783.1:c.1329T>A	NP_001158255.1:p.Asp443Glu
NM_000709.4:c.1332T>A MANE Select	NP_000700.1:p.Asp444Glu
NM_001164783.2:c.1329T>A	NP_001158255.1:p.Asp443Glu