Canonical Allele Identifier: CA308515659

Gene: BCKDHA

Linked Data

• ClinVar Variation Id: 2917290
• ClinVar RCV Id: RCV003637537
• dbSNP Id: rs577534319
• gnomAD v2: 19-41916811-T-G
• gnomAD v4: 19-41410906-T-G
• MyVariant Identifiers: chr19:g.41916811T>G (hg19) ; chr19:g.41410906T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41410906T>G , CM000681.2:g.41410906T>G	GRCh38
NC_000019.9:g.41916811T>G , CM000681.1:g.41916811T>G	GRCh37
NC_000019.8:g.46608651T>G	NCBI36
NG_013004.1:g.18118T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000269980.7:c.289-17T>G MANE Select	ENSP00000269980.2:n.289-17T>G
ENST00000269980.6:c.289-17T>G	ENSP00000269980.2:n.289-17T>G
ENST00000457836.6:c.223-17T>G	ENSP00000416000.2:n.223-17T>G
ENST00000538423.5:n.398T>G
ENST00000540732.3:c.391-17T>G	ENSP00000443246.1:n.391-17T>G
ENST00000541315.1:c.96-17T>G
ENST00000542943.5:c.288+90T>G	ENSP00000440345.1:n.288+90T>G
ENST00000595085.5:c.289-17T>G	ENSP00000471150.2:n.289-17T>G
NM_000709.3:c.289-17T>G	NP_000700.1:n.289-17T>G
NM_001164783.1:c.289-17T>G	NP_001158255.1:n.289-17T>G
NM_000709.4:c.289-17T>G MANE Select	NP_000700.1:n.289-17T>G
NM_001164783.2:c.289-17T>G	NP_001158255.1:n.289-17T>G