Canonical Allele Identifier: CA406023144

Gene: BCKDHA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41397859G>A , CM000681.2:g.41397859G>A	GRCh38
NC_000019.9:g.41903764G>A , CM000681.1:g.41903764G>A	GRCh37
NC_000019.8:g.46595604G>A	NCBI36
NG_013004.1:g.5071G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000709.4:c.32G>A MANE Select	NP_000700.1:p.Trp11Ter
ENST00000269980.7:c.32G>A MANE Select	ENSP00000269980.2:p.Trp11Ter
NM_000709.3:c.32G>A	NP_000700.1:p.Trp11Ter
NM_001164783.1:c.32G>A	NP_001158255.1:p.Trp11Ter
NM_001164783.2:c.32G>A	NP_001158255.1:p.Trp11Ter
ENST00000269980.6:c.32G>A	ENSP00000269980.2:p.Trp11Ter
ENST00000457836.6:c.32G>A	ENSP00000416000.2:p.Trp11Ter
ENST00000538423.5:n.52G>A
ENST00000540732.3:c.211-12778G>A	ENSP00000443246.1:n.211-12778G>A
ENST00000542943.5:c.32G>A	ENSP00000440345.1:p.Trp11Ter
ENST00000595085.5:c.32G>A	ENSP00000471150.2:p.Trp11Ter
ENST00000604424.1:n.351-12778G>A