Canonical Allele Identifier: CA9461095

Gene: BCKDHA

Linked Data

• ClinVar Variation Id: 1102695
• ClinVar RCV Id: RCV001426091
• dbSNP Id: rs573976272
• ExAC: 19:41916890 C / T
• gnomAD v2: 19-41916890-C-T
• gnomAD v3: 19-41410985-C-T
• gnomAD v4: 19-41410985-C-T
• MyVariant Identifiers: chr19:g.41916890C>T (hg19) ; chr19:g.41410985C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41410985C>T , CM000681.2:g.41410985C>T	GRCh38
NC_000019.9:g.41916890C>T , CM000681.1:g.41916890C>T	GRCh37
NC_000019.8:g.46608730C>T	NCBI36
NG_013004.1:g.18197C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.351C>T MANE Select	ENSP00000269980.2:p.Arg117=
ENST00000269980.6:c.351C>T	ENSP00000269980.2:p.Arg117=
ENST00000457836.6:c.285C>T	ENSP00000416000.2:p.Arg95=
ENST00000538423.5:n.477C>T
ENST00000540732.3:c.453C>T	ENSP00000443246.1:p.Arg151=
ENST00000541315.1:c.158C>T
ENST00000542943.5:c.288+169C>T	ENSP00000440345.1:n.288+169C>T
ENST00000595085.5:c.351C>T	ENSP00000471150.2:p.Arg117=
NM_000709.3:c.351C>T	NP_000700.1:p.Arg117=
NM_001164783.1:c.351C>T	NP_001158255.1:p.Arg117=
NM_000709.4:c.351C>T MANE Select	NP_000700.1:p.Arg117=
NM_001164783.2:c.351C>T	NP_001158255.1:p.Arg117=