Canonical Allele Identifier: CA9461256

Gene: BCKDHA

Linked Data

• dbSNP Id: rs749383228
• ExAC: 19:41928206 T / A
• gnomAD v2: 19-41928206-T-A
• gnomAD v4: 19-41422301-T-A
• MyVariant Identifiers: chr19:g.41928206T>A (hg19) ; chr19:g.41422301T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422301T>A , CM000681.2:g.41422301T>A	GRCh38
NC_000019.9:g.41928206T>A , CM000681.1:g.41928206T>A	GRCh37
NC_000019.8:g.46620046T>A	NCBI36
NG_013004.1:g.29513T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.784T>A MANE Select	ENSP00000269980.2:p.Phe262Ile
ENST00000269980.6:c.784T>A	ENSP00000269980.2:p.Phe262Ile
ENST00000457836.6:c.718T>A	ENSP00000416000.2:p.Phe240Ile
ENST00000535632.5:n.413T>A
ENST00000540732.3:c.886T>A	ENSP00000443246.1:p.Phe296Ile
ENST00000542943.5:c.697T>A	ENSP00000440345.1:p.Phe233Ile
ENST00000545787.1:n.412T>A
ENST00000595085.5:c.784T>A	ENSP00000471150.2:p.Phe262Ile
NM_000709.3:c.784T>A	NP_000700.1:p.Phe262Ile
NM_001164783.1:c.784T>A	NP_001158255.1:p.Phe262Ile
NM_000709.4:c.784T>A MANE Select	NP_000700.1:p.Phe262Ile
NM_001164783.2:c.784T>A	NP_001158255.1:p.Phe262Ile