Canonical Allele Identifier: CA406008486

Gene: BCKDHA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41414158G>A , CM000681.2:g.41414158G>A	GRCh38
NC_000019.9:g.41920063G>A , CM000681.1:g.41920063G>A	GRCh37
NC_000019.8:g.46611903G>A	NCBI36
NG_013004.1:g.21370G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000709.4:c.484+1G>A MANE Select	NP_000700.1:n.484+1G>A
ENST00000269980.7:c.484+1G>A MANE Select	ENSP00000269980.2:n.484+1G>A
NM_000709.3:c.484+1G>A	NP_000700.1:n.484+1G>A
NM_001164783.1:c.484+1G>A	NP_001158255.1:n.484+1G>A
NM_001164783.2:c.484+1G>A	NP_001158255.1:n.484+1G>A
ENST00000269980.6:c.484+1G>A	ENSP00000269980.2:n.484+1G>A
ENST00000457836.6:c.418+1G>A	ENSP00000416000.2:n.418+1G>A
ENST00000538423.5:n.610+1G>A
ENST00000540732.3:c.586+1G>A	ENSP00000443246.1:n.586+1G>A
ENST00000541315.1:c.291+1G>A
ENST00000542943.5:c.397+1G>A	ENSP00000440345.1:n.397+1G>A
ENST00000595085.5:c.484+1G>A	ENSP00000471150.2:n.484+1G>A