Canonical Allele Identifier: CA9461146

Gene: BCKDHA

Linked Data

• dbSNP Id: rs749670330
• ExAC: 19:41920024 A / G
• gnomAD v2: 19-41920024-A-G
• gnomAD v4: 19-41414119-A-G
• MyVariant Identifiers: chr19:g.41920024A>G (hg19) ; chr19:g.41414119A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41414119A>G , CM000681.2:g.41414119A>G	GRCh38
NC_000019.9:g.41920024A>G , CM000681.1:g.41920024A>G	GRCh37
NC_000019.8:g.46611864A>G	NCBI36
NG_013004.1:g.21331A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.446A>G MANE Select	ENSP00000269980.2:p.Asp149Gly
ENST00000269980.6:c.446A>G	ENSP00000269980.2:p.Asp149Gly
ENST00000457836.6:c.380A>G	ENSP00000416000.2:p.Asp127Gly
ENST00000538423.5:n.572A>G
ENST00000540732.3:c.548A>G	ENSP00000443246.1:p.Asp183Gly
ENST00000541315.1:c.253A>G
ENST00000542943.5:c.359A>G	ENSP00000440345.1:p.Asp120Gly
ENST00000595085.5:c.446A>G	ENSP00000471150.2:p.Asp149Gly
NM_000709.3:c.446A>G	NP_000700.1:p.Asp149Gly
NM_001164783.1:c.446A>G	NP_001158255.1:p.Asp149Gly
NM_000709.4:c.446A>G MANE Select	NP_000700.1:p.Asp149Gly
NM_001164783.2:c.446A>G	NP_001158255.1:p.Asp149Gly