Canonical Allele Identifier: CA9461242

Gene: BCKDHA

Linked Data

• ClinVar Variation Id: 1092191
• ClinVar RCV Id: RCV001411949
• dbSNP Id: rs771485726
• ExAC: 19:41928106 C / T
• gnomAD v2: 19-41928106-C-T
• gnomAD v4: 19-41422201-C-T
• MyVariant Identifiers: chr19:g.41928106C>T (hg19) ; chr19:g.41422201C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422201C>T , CM000681.2:g.41422201C>T	GRCh38
NC_000019.9:g.41928106C>T , CM000681.1:g.41928106C>T	GRCh37
NC_000019.8:g.46619946C>T	NCBI36
NG_013004.1:g.29413C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.684C>T MANE Select	ENSP00000269980.2:p.Ala228=
ENST00000269980.6:c.684C>T	ENSP00000269980.2:p.Ala228=
ENST00000457836.6:c.618C>T	ENSP00000416000.2:p.Ala206=
ENST00000535632.5:n.313C>T
ENST00000538423.5:n.810C>T
ENST00000540732.3:c.786C>T	ENSP00000443246.1:p.Ala262=
ENST00000541315.1:c.584C>T
ENST00000542943.5:c.597C>T	ENSP00000440345.1:p.Ala199=
ENST00000545787.1:n.312C>T
ENST00000595085.5:c.684C>T	ENSP00000471150.2:p.Ala228=
NM_000709.3:c.684C>T	NP_000700.1:p.Ala228=
NM_001164783.1:c.684C>T	NP_001158255.1:p.Ala228=
NM_000709.4:c.684C>T MANE Select	NP_000700.1:p.Ala228=
NM_001164783.2:c.684C>T	NP_001158255.1:p.Ala228=