Canonical Allele Identifier: CA9461290

Gene: BCKDHA

Linked Data

• ClinVar Variation Id: 553989
• ClinVar RCV Id: RCV000669536 ; RCV001829858
• dbSNP Id: rs764247545
• ExAC: 19:41928539 C / T
• gnomAD v2: 19-41928539-C-T
• gnomAD v3: 19-41422634-C-T
• gnomAD v4: 19-41422634-C-T
• MyVariant Identifiers: chr19:g.41928539C>T (hg19) ; chr19:g.41422634C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422634C>T , CM000681.2:g.41422634C>T	GRCh38
NC_000019.9:g.41928539C>T , CM000681.1:g.41928539C>T	GRCh37
NC_000019.8:g.46620379C>T	NCBI36
NG_013004.1:g.29846C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.859C>T MANE Select	ENSP00000269980.2:p.Arg287Ter
ENST00000269980.6:c.859C>T	ENSP00000269980.2:p.Arg287Ter
ENST00000457836.6:c.793C>T	ENSP00000416000.2:p.Arg265Ter
ENST00000535632.5:n.488C>T
ENST00000540732.3:c.961C>T	ENSP00000443246.1:p.Arg321Ter
ENST00000542943.5:c.772C>T	ENSP00000440345.1:p.Arg258Ter
ENST00000545787.1:n.487C>T
ENST00000595085.5:c.859C>T	ENSP00000471150.2:p.Arg287Ter
NM_000709.3:c.859C>T	NP_000700.1:p.Arg287Ter
NM_001164783.1:c.856C>T	NP_001158255.1:p.Arg286Ter
NM_000709.4:c.859C>T MANE Select	NP_000700.1:p.Arg287Ter
NM_001164783.2:c.856C>T	NP_001158255.1:p.Arg286Ter