Canonical Allele Identifier: CA9461190

Gene: BCKDHA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41419157C>G , CM000681.2:g.41419157C>G	GRCh38
NC_000019.9:g.41925062C>G , CM000681.1:g.41925062C>G	GRCh37
NC_000019.8:g.46616902C>G	NCBI36
NG_013004.1:g.26369C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000709.4:c.507C>G MANE Select	NP_000700.1:p.Tyr169Ter
ENST00000269980.7:c.507C>G MANE Select	ENSP00000269980.2:p.Tyr169Ter
NM_000709.3:c.507C>G	NP_000700.1:p.Tyr169Ter
NM_001164783.1:c.507C>G	NP_001158255.1:p.Tyr169Ter
NM_001164783.2:c.507C>G	NP_001158255.1:p.Tyr169Ter
ENST00000269980.6:c.507C>G	ENSP00000269980.2:p.Tyr169Ter
ENST00000457836.6:c.441C>G	ENSP00000416000.2:p.Tyr147Ter
ENST00000535632.5:n.136C>G
ENST00000538423.5:n.633C>G
ENST00000540732.3:c.609C>G	ENSP00000443246.1:p.Tyr203Ter
ENST00000541315.1:c.407C>G
ENST00000542943.5:c.420C>G	ENSP00000440345.1:p.Tyr140Ter
ENST00000545787.1:n.135C>G
ENST00000595085.5:c.507C>G	ENSP00000471150.2:p.Tyr169Ter