Canonical Allele Identifier: CA507555663

Gene: BCKDHA

Linked Data

• ClinVar Variation Id: 1603118
• ClinVar RCV Id: RCV002141796
• dbSNP Id: rs150700696
• MyVariant Identifiers: chr19:g.41916875T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41410970T>A , CM000681.2:g.41410970T>A	GRCh38
NC_000019.9:g.41916875T>A , CM000681.1:g.41916875T>A	GRCh37
NC_000019.8:g.46608715T>A	NCBI36
NG_013004.1:g.18182T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.336T>A MANE Select	ENSP00000269980.2:p.Leu112=
ENST00000269980.6:c.336T>A	ENSP00000269980.2:p.Leu112=
ENST00000457836.6:c.270T>A	ENSP00000416000.2:p.Leu90=
ENST00000538423.5:n.462T>A
ENST00000540732.3:c.438T>A	ENSP00000443246.1:p.Leu146=
ENST00000541315.1:c.143T>A
ENST00000542943.5:c.288+154T>A	ENSP00000440345.1:n.288+154T>A
ENST00000595085.5:c.336T>A	ENSP00000471150.2:p.Leu112=
NM_000709.3:c.336T>A	NP_000700.1:p.Leu112=
NM_001164783.1:c.336T>A	NP_001158255.1:p.Leu112=
NM_000709.4:c.336T>A MANE Select	NP_000700.1:p.Leu112=
NM_001164783.2:c.336T>A	NP_001158255.1:p.Leu112=