Canonical Allele Identifier: CA9461408

Gene: BCKDHA

Linked Data

• ClinVar Variation Id: 1084513
• ClinVar RCV Id: RCV001401584 ; RCV003953727
• dbSNP Id: rs368383404
• ExAC: 19:41930399 C / T
• gnomAD v2: 19-41930399-C-T
• gnomAD v3: 19-41424494-C-T
• gnomAD v4: 19-41424494-C-T
• MyVariant Identifiers: chr19:g.41930399C>T (hg19) ; chr19:g.41424494C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41424494C>T , CM000681.2:g.41424494C>T	GRCh38
NC_000019.9:g.41930399C>T , CM000681.1:g.41930399C>T	GRCh37
NC_000019.8:g.46622239C>T	NCBI36
NG_013004.1:g.31706C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.1224C>T MANE Select	ENSP00000269980.2:p.Leu408=
ENST00000269980.6:c.1224C>T	ENSP00000269980.2:p.Leu408=
ENST00000457836.6:c.1233C>T	ENSP00000416000.2:p.Leu411=
ENST00000540732.3:c.1326C>T	ENSP00000443246.1:p.Leu442=
ENST00000544905.1:c.62-8C>T
ENST00000595085.5:c.922+1797C>T	ENSP00000471150.2:n.922+1797C>T
NM_000709.3:c.1224C>T	NP_000700.1:p.Leu408=
NM_001164783.1:c.1221C>T	NP_001158255.1:p.Leu407=
NM_000709.4:c.1224C>T MANE Select	NP_000700.1:p.Leu408=
NM_001164783.2:c.1221C>T	NP_001158255.1:p.Leu407=