Canonical Allele Identifier: CA9461024

Gene: BCKDHA

Linked Data

• ClinVar Variation Id: 2168535
• ClinVar RCV Id: RCV003082616
• dbSNP Id: rs748762939
• ExAC: 19:41916636 T / A
• gnomAD v2: 19-41916636-T-A
• gnomAD v3: 19-41410731-T-A
• gnomAD v4: 19-41410731-T-A
• MyVariant Identifiers: chr19:g.41916636T>A (hg19) ; chr19:g.41410731T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41410731T>A , CM000681.2:g.41410731T>A	GRCh38
NC_000019.9:g.41916636T>A , CM000681.1:g.41916636T>A	GRCh37
NC_000019.8:g.46608476T>A	NCBI36
NG_013004.1:g.17943T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000269980.7:c.203T>A MANE Select	ENSP00000269980.2:p.Ile68Asn
ENST00000269980.6:c.203T>A	ENSP00000269980.2:p.Ile68Asn
ENST00000457836.6:c.137T>A	ENSP00000416000.2:p.Ile46Asn
ENST00000538423.5:n.223T>A
ENST00000540732.3:c.305T>A	ENSP00000443246.1:p.Ile102Asn
ENST00000541315.1:c.10T>A
ENST00000542943.5:c.203T>A	ENSP00000440345.1:p.Ile68Asn
ENST00000595085.5:c.203T>A	ENSP00000471150.2:p.Ile68Asn
ENST00000604424.1:n.445T>A
NM_000709.3:c.203T>A	NP_000700.1:p.Ile68Asn
NM_001164783.1:c.203T>A	NP_001158255.1:p.Ile68Asn
NM_000709.4:c.203T>A MANE Select	NP_000700.1:p.Ile68Asn
NM_001164783.2:c.203T>A	NP_001158255.1:p.Ile68Asn