Canonical Allele Identifier: CA9461230

Gene: BCKDHA

Linked Data

• ClinVar Variation Id: 1323975
• ClinVar RCV Id: RCV001780680 ; RCV003892844
• dbSNP Id: rs369448982
• ExAC: 19:41928069 C / T
• gnomAD v2: 19-41928069-C-T
• gnomAD v3: 19-41422164-C-T
• gnomAD v4: 19-41422164-C-T
• MyVariant Identifiers: chr19:g.41928069C>T (hg19) ; chr19:g.41422164C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422164C>T , CM000681.2:g.41422164C>T	GRCh38
NC_000019.9:g.41928069C>T , CM000681.1:g.41928069C>T	GRCh37
NC_000019.8:g.46619909C>T	NCBI36
NG_013004.1:g.29376C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000269980.7:c.647C>T MANE Select	ENSP00000269980.2:p.Ala216Val
ENST00000269980.6:c.647C>T	ENSP00000269980.2:p.Ala216Val
ENST00000457836.6:c.581C>T	ENSP00000416000.2:p.Ala194Val
ENST00000535632.5:n.276C>T
ENST00000538423.5:n.773C>T
ENST00000540732.3:c.749C>T	ENSP00000443246.1:p.Ala250Val
ENST00000541315.1:c.547C>T
ENST00000542943.5:c.560C>T	ENSP00000440345.1:p.Ala187Val
ENST00000545787.1:n.275C>T
ENST00000595085.5:c.647C>T	ENSP00000471150.2:p.Ala216Val
NM_000709.3:c.647C>T	NP_000700.1:p.Ala216Val
NM_001164783.1:c.647C>T	NP_001158255.1:p.Ala216Val
NM_000709.4:c.647C>T MANE Select	NP_000700.1:p.Ala216Val
NM_001164783.2:c.647C>T	NP_001158255.1:p.Ala216Val