Canonical Allele Identifier: CA406013448

Gene: BCKDHA

Linked Data

• MyVariant Identifiers: chr19:g.41928629G>A (hg19) ; chr19:g.41422724G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422724G>A , CM000681.2:g.41422724G>A	GRCh38
NC_000019.9:g.41928629G>A , CM000681.1:g.41928629G>A	GRCh37
NC_000019.8:g.46620469G>A	NCBI36
NG_013004.1:g.29936G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000269980.7:c.949G>A MANE Select	ENSP00000269980.2:p.Ala317Thr
ENST00000269980.6:c.949G>A	ENSP00000269980.2:p.Ala317Thr
ENST00000457836.6:c.883G>A	ENSP00000416000.2:p.Ala295Thr
ENST00000535632.5:n.578G>A
ENST00000540732.3:c.1051G>A	ENSP00000443246.1:p.Ala351Thr
ENST00000542943.5:c.862G>A	ENSP00000440345.1:p.Ala288Thr
ENST00000545787.1:n.577G>A
ENST00000595085.5:c.922+27G>A	ENSP00000471150.2:n.922+27G>A
NM_000709.3:c.949G>A	NP_000700.1:p.Ala317Thr
NM_001164783.1:c.946G>A	NP_001158255.1:p.Ala316Thr
NM_000709.4:c.949G>A MANE Select	NP_000700.1:p.Ala317Thr
NM_001164783.2:c.946G>A	NP_001158255.1:p.Ala316Thr