Canonical Allele Identifier: CA406012701

Gene: BCKDHA

Linked Data

• dbSNP Id: rs1440985394
• gnomAD v2: 19-41928092-A-G
• gnomAD v4: 19-41422187-A-G
• MyVariant Identifiers: chr19:g.41928092A>G (hg19) ; chr19:g.41422187A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422187A>G , CM000681.2:g.41422187A>G	GRCh38
NC_000019.9:g.41928092A>G , CM000681.1:g.41928092A>G	GRCh37
NC_000019.8:g.46619932A>G	NCBI36
NG_013004.1:g.29399A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000269980.7:c.670A>G MANE Select	ENSP00000269980.2:p.Lys224Glu
ENST00000269980.6:c.670A>G	ENSP00000269980.2:p.Lys224Glu
ENST00000457836.6:c.604A>G	ENSP00000416000.2:p.Lys202Glu
ENST00000535632.5:n.299A>G
ENST00000538423.5:n.796A>G
ENST00000540732.3:c.772A>G	ENSP00000443246.1:p.Lys258Glu
ENST00000541315.1:c.570A>G
ENST00000542943.5:c.583A>G	ENSP00000440345.1:p.Lys195Glu
ENST00000545787.1:n.298A>G
ENST00000595085.5:c.670A>G	ENSP00000471150.2:p.Lys224Glu
NM_000709.3:c.670A>G	NP_000700.1:p.Lys224Glu
NM_001164783.1:c.670A>G	NP_001158255.1:p.Lys224Glu
NM_000709.4:c.670A>G MANE Select	NP_000700.1:p.Lys224Glu
NM_001164783.2:c.670A>G	NP_001158255.1:p.Lys224Glu