Canonical Allele Identifier: CA406013096

Gene: BCKDHA

Linked Data

• MyVariant Identifiers: chr19:g.41928275G>A (hg19) ; chr19:g.41422370G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422370G>A , CM000681.2:g.41422370G>A	GRCh38
NC_000019.9:g.41928275G>A , CM000681.1:g.41928275G>A	GRCh37
NC_000019.8:g.46620115G>A	NCBI36
NG_013004.1:g.29582G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.853G>A MANE Select	ENSP00000269980.2:p.Ala285Thr
ENST00000269980.6:c.853G>A	ENSP00000269980.2:p.Ala285Thr
ENST00000457836.6:c.787G>A	ENSP00000416000.2:p.Ala263Thr
ENST00000535632.5:n.482G>A
ENST00000540732.3:c.955G>A	ENSP00000443246.1:p.Ala319Thr
ENST00000542943.5:c.766G>A	ENSP00000440345.1:p.Ala256Thr
ENST00000545787.1:n.481G>A
ENST00000595085.5:c.853G>A	ENSP00000471150.2:p.Ala285Thr
NM_000709.3:c.853G>A	NP_000700.1:p.Ala285Thr
NM_001164783.1:c.853G>A	NP_001158255.1:p.Ala285Thr
NM_000709.4:c.853G>A MANE Select	NP_000700.1:p.Ala285Thr
NM_001164783.2:c.853G>A	NP_001158255.1:p.Ala285Thr