Canonical Allele Identifier: CA406012922

Gene: BCKDHA

Linked Data

• ClinVar Variation Id: 871298
• ClinVar RCV Id: RCV001091179
• dbSNP Id: rs2039375435
• MyVariant Identifiers: chr19:g.41928196C>A (hg19) ; chr19:g.41422291C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422291C>A , CM000681.2:g.41422291C>A	GRCh38
NC_000019.9:g.41928196C>A , CM000681.1:g.41928196C>A	GRCh37
NC_000019.8:g.46620036C>A	NCBI36
NG_013004.1:g.29503C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.774C>A MANE Select	ENSP00000269980.2:p.Cys258Ter
ENST00000269980.6:c.774C>A	ENSP00000269980.2:p.Cys258Ter
ENST00000457836.6:c.708C>A	ENSP00000416000.2:p.Cys236Ter
ENST00000535632.5:n.403C>A
ENST00000540732.3:c.876C>A	ENSP00000443246.1:p.Cys292Ter
ENST00000542943.5:c.687C>A	ENSP00000440345.1:p.Cys229Ter
ENST00000545787.1:n.402C>A
ENST00000595085.5:c.774C>A	ENSP00000471150.2:p.Cys258Ter
NM_000709.3:c.774C>A	NP_000700.1:p.Cys258Ter
NM_001164783.1:c.774C>A	NP_001158255.1:p.Cys258Ter
NM_000709.4:c.774C>A MANE Select	NP_000700.1:p.Cys258Ter
NM_001164783.2:c.774C>A	NP_001158255.1:p.Cys258Ter