Canonical Allele Identifier: CA406005971

Gene: BCKDHA

Linked Data

• MyVariant Identifiers: chr19:g.41916899T>A (hg19) ; chr19:g.41410994T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41410994T>A , CM000681.2:g.41410994T>A	GRCh38
NC_000019.9:g.41916899T>A , CM000681.1:g.41916899T>A	GRCh37
NC_000019.8:g.46608739T>A	NCBI36
NG_013004.1:g.18206T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.360T>A MANE Select	ENSP00000269980.2:p.Tyr120Ter
ENST00000269980.6:c.360T>A	ENSP00000269980.2:p.Tyr120Ter
ENST00000457836.6:c.294T>A	ENSP00000416000.2:p.Tyr98Ter
ENST00000538423.5:n.486T>A
ENST00000540732.3:c.462T>A	ENSP00000443246.1:p.Tyr154Ter
ENST00000541315.1:c.167T>A
ENST00000542943.5:c.288+178T>A	ENSP00000440345.1:n.288+178T>A
ENST00000595085.5:c.360T>A	ENSP00000471150.2:p.Tyr120Ter
NM_000709.3:c.360T>A	NP_000700.1:p.Tyr120Ter
NM_001164783.1:c.360T>A	NP_001158255.1:p.Tyr120Ter
NM_000709.4:c.360T>A MANE Select	NP_000700.1:p.Tyr120Ter
NM_001164783.2:c.360T>A	NP_001158255.1:p.Tyr120Ter