Canonical Allele Identifier: CA221208

Gene: BCKDHA

Linked Data

• ClinVar Variation Id: 93368
• ClinVar RCV Id: RCV003298133 ; RCV003894931
• dbSNP Id: rs151227241
• ExAC: 19:41928085 C / T
• gnomAD v2: 19-41928085-C-T
• gnomAD v3: 19-41422180-C-T
• gnomAD v4: 19-41422180-C-T
• MyVariant Identifiers: chr19:g.41928085C>T (hg19) ; chr19:g.41422180C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422180C>T , CM000681.2:g.41422180C>T	GRCh38
NC_000019.9:g.41928085C>T , CM000681.1:g.41928085C>T	GRCh37
NC_000019.8:g.46619925C>T	NCBI36
NG_013004.1:g.29392C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000269980.7:c.663C>T MANE Select	ENSP00000269980.2:p.Tyr221=
ENST00000269980.6:c.663C>T	ENSP00000269980.2:p.Tyr221=
ENST00000457836.6:c.597C>T	ENSP00000416000.2:p.Tyr199=
ENST00000535632.5:n.292C>T
ENST00000538423.5:n.789C>T
ENST00000540732.3:c.765C>T	ENSP00000443246.1:p.Tyr255=
ENST00000541315.1:c.563C>T
ENST00000542943.5:c.576C>T	ENSP00000440345.1:p.Tyr192=
ENST00000545787.1:n.291C>T
ENST00000595085.5:c.663C>T	ENSP00000471150.2:p.Tyr221=
NM_000709.3:c.663C>T	NP_000700.1:p.Tyr221=
NM_001164783.1:c.663C>T	NP_001158255.1:p.Tyr221=
NM_000709.4:c.663C>T MANE Select	NP_000700.1:p.Tyr221=
NM_001164783.2:c.663C>T	NP_001158255.1:p.Tyr221=