Canonical Allele Identifier: CA406012663

Gene: BCKDHA

Linked Data

• MyVariant Identifiers: chr19:g.41928071G>T (hg19) ; chr19:g.41422166G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422166G>T , CM000681.2:g.41422166G>T	GRCh38
NC_000019.9:g.41928071G>T , CM000681.1:g.41928071G>T	GRCh37
NC_000019.8:g.46619911G>T	NCBI36
NG_013004.1:g.29378G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.649G>T MANE Select	ENSP00000269980.2:p.Val217Leu
ENST00000269980.6:c.649G>T	ENSP00000269980.2:p.Val217Leu
ENST00000457836.6:c.583G>T	ENSP00000416000.2:p.Val195Leu
ENST00000535632.5:n.278G>T
ENST00000538423.5:n.775G>T
ENST00000540732.3:c.751G>T	ENSP00000443246.1:p.Val251Leu
ENST00000541315.1:c.549G>T
ENST00000542943.5:c.562G>T	ENSP00000440345.1:p.Val188Leu
ENST00000545787.1:n.277G>T
ENST00000595085.5:c.649G>T	ENSP00000471150.2:p.Val217Leu
NM_000709.3:c.649G>T	NP_000700.1:p.Val217Leu
NM_001164783.1:c.649G>T	NP_001158255.1:p.Val217Leu
NM_000709.4:c.649G>T MANE Select	NP_000700.1:p.Val217Leu
NM_001164783.2:c.649G>T	NP_001158255.1:p.Val217Leu