Canonical Allele Identifier: CA406013210

Gene: BCKDHA

Linked Data

• MyVariant Identifiers: chr19:g.41928542G>T (hg19) ; chr19:g.41422637G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422637G>T , CM000681.2:g.41422637G>T	GRCh38
NC_000019.9:g.41928542G>T , CM000681.1:g.41928542G>T	GRCh37
NC_000019.8:g.46620382G>T	NCBI36
NG_013004.1:g.29849G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000269980.7:c.862G>T MANE Select	ENSP00000269980.2:p.Gly288Cys
ENST00000269980.6:c.862G>T	ENSP00000269980.2:p.Gly288Cys
ENST00000457836.6:c.796G>T	ENSP00000416000.2:p.Gly266Cys
ENST00000535632.5:n.491G>T
ENST00000540732.3:c.964G>T	ENSP00000443246.1:p.Gly322Cys
ENST00000542943.5:c.775G>T	ENSP00000440345.1:p.Gly259Cys
ENST00000545787.1:n.490G>T
ENST00000595085.5:c.862G>T	ENSP00000471150.2:p.Gly288Cys
NM_000709.3:c.862G>T	NP_000700.1:p.Gly288Cys
NM_001164783.1:c.859G>T	NP_001158255.1:p.Gly287Cys
NM_000709.4:c.862G>T MANE Select	NP_000700.1:p.Gly288Cys
NM_001164783.2:c.859G>T	NP_001158255.1:p.Gly287Cys