Canonical Allele Identifier: CA221210

Gene: BCKDHA

Linked Data

• ClinVar Variation Id: 93369
• ClinVar RCV Id: RCV000338131 ; RCV000723409 ; RCV001273306 ; RCV003298134
• dbSNP Id: rs146932786
• ExAC: 19:41928130 C / T
• gnomAD v2: 19-41928130-C-T
• gnomAD v3: 19-41422225-C-T
• gnomAD v4: 19-41422225-C-T
• MyVariant Identifiers: chr19:g.41928130C>T (hg19) ; chr19:g.41422225C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422225C>T , CM000681.2:g.41422225C>T	GRCh38
NC_000019.9:g.41928130C>T , CM000681.1:g.41928130C>T	GRCh37
NC_000019.8:g.46619970C>T	NCBI36
NG_013004.1:g.29437C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.708C>T MANE Select	ENSP00000269980.2:p.Phe236=
ENST00000269980.6:c.708C>T	ENSP00000269980.2:p.Phe236=
ENST00000457836.6:c.642C>T	ENSP00000416000.2:p.Phe214=
ENST00000535632.5:n.337C>T
ENST00000540732.3:c.810C>T	ENSP00000443246.1:p.Phe270=
ENST00000541315.1:c.608C>T
ENST00000542943.5:c.621C>T	ENSP00000440345.1:p.Phe207=
ENST00000545787.1:n.336C>T
ENST00000595085.5:c.708C>T	ENSP00000471150.2:p.Phe236=
NM_000709.3:c.708C>T	NP_000700.1:p.Phe236=
NM_001164783.1:c.708C>T	NP_001158255.1:p.Phe236=
NM_000709.4:c.708C>T MANE Select	NP_000700.1:p.Phe236=
NM_001164783.2:c.708C>T	NP_001158255.1:p.Phe236=