Canonical Allele Identifier: CA633470382

Gene: BCKDHA

Linked Data

• ClinVar Variation Id: 2971942
• ClinVar RCV Id: RCV003833004
• dbSNP Id: rs1446357220
• gnomAD v2: 19-41928287-G-A
• gnomAD v4: 19-41422382-G-A
• MyVariant Identifiers: chr19:g.41928287G>A (hg19) ; chr19:g.41422382G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422382G>A , CM000681.2:g.41422382G>A	GRCh38
NC_000019.9:g.41928287G>A , CM000681.1:g.41928287G>A	GRCh37
NC_000019.8:g.46620127G>A	NCBI36
NG_013004.1:g.29594G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.853+12G>A MANE Select	ENSP00000269980.2:n.853+12G>A
ENST00000269980.6:c.853+12G>A	ENSP00000269980.2:n.853+12G>A
ENST00000457836.6:c.787+12G>A	ENSP00000416000.2:n.787+12G>A
ENST00000535632.5:n.482+12G>A
ENST00000540732.3:c.955+12G>A	ENSP00000443246.1:n.955+12G>A
ENST00000542943.5:c.766+12G>A	ENSP00000440345.1:n.766+12G>A
ENST00000545787.1:n.481+12G>A
ENST00000595085.5:c.853+12G>A	ENSP00000471150.2:n.853+12G>A
NM_000709.3:c.853+12G>A	NP_000700.1:n.853+12G>A
NM_001164783.1:c.853+12G>A	NP_001158255.1:n.853+12G>A
NM_000709.4:c.853+12G>A MANE Select	NP_000700.1:n.853+12G>A
NM_001164783.2:c.853+12G>A	NP_001158255.1:n.853+12G>A