Canonical Allele Identifier: CA406012797

Gene: BCKDHA

Linked Data

• gnomAD v4: 19-41422233-G-A
• MyVariant Identifiers: chr19:g.41928138G>A (hg19) ; chr19:g.41422233G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422233G>A , CM000681.2:g.41422233G>A	GRCh38
NC_000019.9:g.41928138G>A , CM000681.1:g.41928138G>A	GRCh37
NC_000019.8:g.46619978G>A	NCBI36
NG_013004.1:g.29445G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.716G>A MANE Select	ENSP00000269980.2:p.Gly239Glu
ENST00000269980.6:c.716G>A	ENSP00000269980.2:p.Gly239Glu
ENST00000457836.6:c.650G>A	ENSP00000416000.2:p.Gly217Glu
ENST00000535632.5:n.345G>A
ENST00000540732.3:c.818G>A	ENSP00000443246.1:p.Gly273Glu
ENST00000541315.1:c.616G>A
ENST00000542943.5:c.629G>A	ENSP00000440345.1:p.Gly210Glu
ENST00000545787.1:n.344G>A
ENST00000595085.5:c.716G>A	ENSP00000471150.2:p.Gly239Glu
NM_000709.3:c.716G>A	NP_000700.1:p.Gly239Glu
NM_001164783.1:c.716G>A	NP_001158255.1:p.Gly239Glu
NM_000709.4:c.716G>A MANE Select	NP_000700.1:p.Gly239Glu
NM_001164783.2:c.716G>A	NP_001158255.1:p.Gly239Glu