Canonical Allele Identifier: CA406012788

Gene: BCKDHA

Linked Data

• MyVariant Identifiers: chr19:g.41928134G>C (hg19) ; chr19:g.41422229G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422229G>C , CM000681.2:g.41422229G>C	GRCh38
NC_000019.9:g.41928134G>C , CM000681.1:g.41928134G>C	GRCh37
NC_000019.8:g.46619974G>C	NCBI36
NG_013004.1:g.29441G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.712G>C MANE Select	ENSP00000269980.2:p.Glu238Gln
ENST00000269980.6:c.712G>C	ENSP00000269980.2:p.Glu238Gln
ENST00000457836.6:c.646G>C	ENSP00000416000.2:p.Glu216Gln
ENST00000535632.5:n.341G>C
ENST00000540732.3:c.814G>C	ENSP00000443246.1:p.Glu272Gln
ENST00000541315.1:c.612G>C
ENST00000542943.5:c.625G>C	ENSP00000440345.1:p.Glu209Gln
ENST00000545787.1:n.340G>C
ENST00000595085.5:c.712G>C	ENSP00000471150.2:p.Glu238Gln
NM_000709.3:c.712G>C	NP_000700.1:p.Glu238Gln
NM_001164783.1:c.712G>C	NP_001158255.1:p.Glu238Gln
NM_000709.4:c.712G>C MANE Select	NP_000700.1:p.Glu238Gln
NM_001164783.2:c.712G>C	NP_001158255.1:p.Glu238Gln