Canonical Allele Identifier: CA406012825

Gene: BCKDHA

Linked Data

• MyVariant Identifiers: chr19:g.41928151G>T (hg19) ; chr19:g.41422246G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422246G>T , CM000681.2:g.41422246G>T	GRCh38
NC_000019.9:g.41928151G>T , CM000681.1:g.41928151G>T	GRCh37
NC_000019.8:g.46619991G>T	NCBI36
NG_013004.1:g.29458G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.729G>T MANE Select	ENSP00000269980.2:p.Glu243Asp
ENST00000269980.6:c.729G>T	ENSP00000269980.2:p.Glu243Asp
ENST00000457836.6:c.663G>T	ENSP00000416000.2:p.Glu221Asp
ENST00000535632.5:n.358G>T
ENST00000540732.3:c.831G>T	ENSP00000443246.1:p.Glu277Asp
ENST00000541315.1:c.629G>T
ENST00000542943.5:c.642G>T	ENSP00000440345.1:p.Glu214Asp
ENST00000545787.1:n.357G>T
ENST00000595085.5:c.729G>T	ENSP00000471150.2:p.Glu243Asp
NM_000709.3:c.729G>T	NP_000700.1:p.Glu243Asp
NM_001164783.1:c.729G>T	NP_001158255.1:p.Glu243Asp
NM_000709.4:c.729G>T MANE Select	NP_000700.1:p.Glu243Asp
NM_001164783.2:c.729G>T	NP_001158255.1:p.Glu243Asp