Canonical Allele Identifier: CA9461237

Gene: BCKDHA

Linked Data

• dbSNP Id: rs748138532
• ExAC: 19:41928083 T / C
• gnomAD v2: 19-41928083-T-C
• gnomAD v4: 19-41422178-T-C
• MyVariant Identifiers: chr19:g.41928083T>C (hg19) ; chr19:g.41422178T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422178T>C , CM000681.2:g.41422178T>C	GRCh38
NC_000019.9:g.41928083T>C , CM000681.1:g.41928083T>C	GRCh37
NC_000019.8:g.46619923T>C	NCBI36
NG_013004.1:g.29390T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000269980.7:c.661T>C MANE Select	ENSP00000269980.2:p.Tyr221His
ENST00000269980.6:c.661T>C	ENSP00000269980.2:p.Tyr221His
ENST00000457836.6:c.595T>C	ENSP00000416000.2:p.Tyr199His
ENST00000535632.5:n.290T>C
ENST00000538423.5:n.787T>C
ENST00000540732.3:c.763T>C	ENSP00000443246.1:p.Tyr255His
ENST00000541315.1:c.561T>C
ENST00000542943.5:c.574T>C	ENSP00000440345.1:p.Tyr192His
ENST00000545787.1:n.289T>C
ENST00000595085.5:c.661T>C	ENSP00000471150.2:p.Tyr221His
NM_000709.3:c.661T>C	NP_000700.1:p.Tyr221His
NM_001164783.1:c.661T>C	NP_001158255.1:p.Tyr221His
NM_000709.4:c.661T>C MANE Select	NP_000700.1:p.Tyr221His
NM_001164783.2:c.661T>C	NP_001158255.1:p.Tyr221His