Canonical Allele Identifier: CA406004617

Gene: BCKDHA

Linked Data

• gnomAD v4: 19-41410678-C-G
• MyVariant Identifiers: chr19:g.41916583C>G (hg19) ; chr19:g.41410678C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41410678C>G , CM000681.2:g.41410678C>G	GRCh38
NC_000019.9:g.41916583C>G , CM000681.1:g.41916583C>G	GRCh37
NC_000019.8:g.46608423C>G	NCBI36
NG_013004.1:g.17890C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000269980.7:c.150C>G MANE Select	ENSP00000269980.2:p.Asp50Glu
ENST00000269980.6:c.150C>G	ENSP00000269980.2:p.Asp50Glu
ENST00000457836.6:c.84C>G	ENSP00000416000.2:p.Asp28Glu
ENST00000538423.5:n.170C>G
ENST00000540732.3:c.252C>G	ENSP00000443246.1:p.Asp84Glu
ENST00000542943.5:c.150C>G	ENSP00000440345.1:p.Asp50Glu
ENST00000595085.5:c.150C>G	ENSP00000471150.2:p.Asp50Glu
ENST00000604424.1:n.392C>G
NM_000709.3:c.150C>G	NP_000700.1:p.Asp50Glu
NM_001164783.1:c.150C>G	NP_001158255.1:p.Asp50Glu
NM_000709.4:c.150C>G MANE Select	NP_000700.1:p.Asp50Glu
NM_001164783.2:c.150C>G	NP_001158255.1:p.Asp50Glu