Canonical Allele Identifier: CA406013267

Gene: BCKDHA

Linked Data

• MyVariant Identifiers: chr19:g.41928553T>G (hg19) ; chr19:g.41422648T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422648T>G , CM000681.2:g.41422648T>G	GRCh38
NC_000019.9:g.41928553T>G , CM000681.1:g.41928553T>G	GRCh37
NC_000019.8:g.46620393T>G	NCBI36
NG_013004.1:g.29860T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000269980.7:c.873T>G MANE Select	ENSP00000269980.2:p.Tyr291Ter
ENST00000269980.6:c.873T>G	ENSP00000269980.2:p.Tyr291Ter
ENST00000457836.6:c.807T>G	ENSP00000416000.2:p.Tyr269Ter
ENST00000535632.5:n.502T>G
ENST00000540732.3:c.975T>G	ENSP00000443246.1:p.Tyr325Ter
ENST00000542943.5:c.786T>G	ENSP00000440345.1:p.Tyr262Ter
ENST00000545787.1:n.501T>G
ENST00000595085.5:c.873T>G	ENSP00000471150.2:p.Tyr291Ter
NM_000709.3:c.873T>G	NP_000700.1:p.Tyr291Ter
NM_001164783.1:c.870T>G	NP_001158255.1:p.Tyr290Ter
NM_000709.4:c.873T>G MANE Select	NP_000700.1:p.Tyr291Ter
NM_001164783.2:c.870T>G	NP_001158255.1:p.Tyr290Ter