Canonical Allele Identifier: CA507690725

Gene: BCKDHA

Linked Data

• ClinVar Variation Id: 1087749
• ClinVar RCV Id: RCV001405967
• dbSNP Id: rs758972542
• gnomAD v2: 19-41928601-C-T
• gnomAD v3: 19-41422696-C-T
• gnomAD v4: 19-41422696-C-T
• MyVariant Identifiers: chr19:g.41928601C>T (hg19) ; chr19:g.41422696C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422696C>T , CM000681.2:g.41422696C>T	GRCh38
NC_000019.9:g.41928601C>T , CM000681.1:g.41928601C>T	GRCh37
NC_000019.8:g.46620441C>T	NCBI36
NG_013004.1:g.29908C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.921C>T MANE Select	ENSP00000269980.2:p.Tyr307=
ENST00000269980.6:c.921C>T	ENSP00000269980.2:p.Tyr307=
ENST00000457836.6:c.855C>T	ENSP00000416000.2:p.Tyr285=
ENST00000535632.5:n.550C>T
ENST00000540732.3:c.1023C>T	ENSP00000443246.1:p.Tyr341=
ENST00000542943.5:c.834C>T	ENSP00000440345.1:p.Tyr278=
ENST00000545787.1:n.549C>T
ENST00000595085.5:c.921C>T	ENSP00000471150.2:p.Tyr307=
NM_000709.3:c.921C>T	NP_000700.1:p.Tyr307=
NM_001164783.1:c.918C>T	NP_001158255.1:p.Tyr306=
NM_000709.4:c.921C>T MANE Select	NP_000700.1:p.Tyr307=
NM_001164783.2:c.918C>T	NP_001158255.1:p.Tyr306=