Canonical Allele Identifier: CA406013731

Gene: BCKDHA

Linked Data

• ClinVar Variation Id: 2680120
• ClinVar RCV Id: RCV003465158
• gnomAD v4: 19-41422997-G-A
• MyVariant Identifiers: chr19:g.41928902G>A (hg19) ; chr19:g.41422997G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422997G>A , CM000681.2:g.41422997G>A	GRCh38
NC_000019.9:g.41928902G>A , CM000681.1:g.41928902G>A	GRCh37
NC_000019.8:g.46620742G>A	NCBI36
NG_013004.1:g.30209G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.996-1G>A MANE Select	ENSP00000269980.2:n.996-1G>A
ENST00000269980.6:c.996-1G>A	ENSP00000269980.2:n.996-1G>A
ENST00000457836.6:c.1004G>A	ENSP00000416000.2:p.Arg335Lys
ENST00000540732.3:c.1098-1G>A	ENSP00000443246.1:n.1098-1G>A
ENST00000542943.5:c.909-1G>A	ENSP00000440345.1:n.909-1G>A
ENST00000595085.5:c.922+300G>A	ENSP00000471150.2:n.922+300G>A
NM_000709.3:c.996-1G>A	NP_000700.1:n.996-1G>A
NM_001164783.1:c.993-1G>A	NP_001158255.1:n.993-1G>A
NM_000709.4:c.996-1G>A MANE Select	NP_000700.1:n.996-1G>A
NM_001164783.2:c.993-1G>A	NP_001158255.1:n.993-1G>A