Canonical Allele Identifier: CA406013391

Gene: BCKDHA

Linked Data

• dbSNP Id: rs1403366196
• gnomAD v2: 19-41928596-G-A
• gnomAD v3: 19-41422691-G-A
• gnomAD v4: 19-41422691-G-A
• MyVariant Identifiers: chr19:g.41928596G>A (hg19) ; chr19:g.41422691G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422691G>A , CM000681.2:g.41422691G>A	GRCh38
NC_000019.9:g.41928596G>A , CM000681.1:g.41928596G>A	GRCh37
NC_000019.8:g.46620436G>A	NCBI36
NG_013004.1:g.29903G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.916G>A MANE Select	ENSP00000269980.2:p.Val306Ile
ENST00000269980.6:c.916G>A	ENSP00000269980.2:p.Val306Ile
ENST00000457836.6:c.850G>A	ENSP00000416000.2:p.Val284Ile
ENST00000535632.5:n.545G>A
ENST00000540732.3:c.1018G>A	ENSP00000443246.1:p.Val340Ile
ENST00000542943.5:c.829G>A	ENSP00000440345.1:p.Val277Ile
ENST00000545787.1:n.544G>A
ENST00000595085.5:c.916G>A	ENSP00000471150.2:p.Val306Ile
NM_000709.3:c.916G>A	NP_000700.1:p.Val306Ile
NM_001164783.1:c.913G>A	NP_001158255.1:p.Val305Ile
NM_000709.4:c.916G>A MANE Select	NP_000700.1:p.Val306Ile
NM_001164783.2:c.913G>A	NP_001158255.1:p.Val305Ile