Canonical Allele Identifier: CA9461291

Gene: BCKDHA

Linked Data

• ClinVar Variation Id: 1513404
• ClinVar RCV Id: RCV002018388
• dbSNP Id: rs757457825
• ExAC: 19:41928540 G / A
• gnomAD v2: 19-41928540-G-A
• gnomAD v3: 19-41422635-G-A
• gnomAD v4: 19-41422635-G-A
• MyVariant Identifiers: chr19:g.41928540G>A (hg19) ; chr19:g.41422635G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422635G>A , CM000681.2:g.41422635G>A	GRCh38
NC_000019.9:g.41928540G>A , CM000681.1:g.41928540G>A	GRCh37
NC_000019.8:g.46620380G>A	NCBI36
NG_013004.1:g.29847G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000269980.7:c.860G>A MANE Select	ENSP00000269980.2:p.Arg287Gln
ENST00000269980.6:c.860G>A	ENSP00000269980.2:p.Arg287Gln
ENST00000457836.6:c.794G>A	ENSP00000416000.2:p.Arg265Gln
ENST00000535632.5:n.489G>A
ENST00000540732.3:c.962G>A	ENSP00000443246.1:p.Arg321Gln
ENST00000542943.5:c.773G>A	ENSP00000440345.1:p.Arg258Gln
ENST00000545787.1:n.488G>A
ENST00000595085.5:c.860G>A	ENSP00000471150.2:p.Arg287Gln
NM_000709.3:c.860G>A	NP_000700.1:p.Arg287Gln
NM_001164783.1:c.857G>A	NP_001158255.1:p.Arg286Gln
NM_000709.4:c.860G>A MANE Select	NP_000700.1:p.Arg287Gln
NM_001164783.2:c.857G>A	NP_001158255.1:p.Arg286Gln