Canonical Allele Identifier: CA507555683

Gene: BCKDHA

Linked Data

• MyVariant Identifiers: chr19:g.41916881C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41410976C>A , CM000681.2:g.41410976C>A	GRCh38
NC_000019.9:g.41916881C>A , CM000681.1:g.41916881C>A	GRCh37
NC_000019.8:g.46608721C>A	NCBI36
NG_013004.1:g.18188C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.342C>A MANE Select	ENSP00000269980.2:p.Thr114=
ENST00000269980.6:c.342C>A	ENSP00000269980.2:p.Thr114=
ENST00000457836.6:c.276C>A	ENSP00000416000.2:p.Thr92=
ENST00000538423.5:n.468C>A
ENST00000540732.3:c.444C>A	ENSP00000443246.1:p.Thr148=
ENST00000541315.1:c.149C>A
ENST00000542943.5:c.288+160C>A	ENSP00000440345.1:n.288+160C>A
ENST00000595085.5:c.342C>A	ENSP00000471150.2:p.Thr114=
NM_000709.3:c.342C>A	NP_000700.1:p.Thr114=
NM_001164783.1:c.342C>A	NP_001158255.1:p.Thr114=
NM_000709.4:c.342C>A MANE Select	NP_000700.1:p.Thr114=
NM_001164783.2:c.342C>A	NP_001158255.1:p.Thr114=