Canonical Allele Identifier: CA406015600

Gene: BCKDHA

Linked Data

• MyVariant Identifiers: chr19:g.41930467T>A (hg19) ; chr19:g.41424562T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41424562T>A , CM000681.2:g.41424562T>A	GRCh38
NC_000019.9:g.41930467T>A , CM000681.1:g.41930467T>A	GRCh37
NC_000019.8:g.46622307T>A	NCBI36
NG_013004.1:g.31774T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.1292T>A MANE Select	ENSP00000269980.2:p.Leu431Gln
ENST00000269980.6:c.1292T>A	ENSP00000269980.2:p.Leu431Gln
ENST00000457836.6:c.1301T>A	ENSP00000416000.2:p.Leu434Gln
ENST00000540732.3:c.1394T>A	ENSP00000443246.1:p.Leu465Gln
ENST00000544905.1:c.122T>A
ENST00000595085.5:c.922+1865T>A	ENSP00000471150.2:n.922+1865T>A
NM_000709.3:c.1292T>A	NP_000700.1:p.Leu431Gln
NM_001164783.1:c.1289T>A	NP_001158255.1:p.Leu430Gln
NM_000709.4:c.1292T>A MANE Select	NP_000700.1:p.Leu431Gln
NM_001164783.2:c.1289T>A	NP_001158255.1:p.Leu430Gln