Canonical Allele Identifier: CA507555427

Gene: BCKDHA

Linked Data

• ClinVar Variation Id: 2878806
• ClinVar RCV Id: RCV003635717
• dbSNP Id: rs1384128277
• gnomAD v2: 19-41916631-A-G
• gnomAD v4: 19-41410726-A-G
• MyVariant Identifiers: chr19:g.41916631A>G (hg19) ; chr19:g.41410726A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41410726A>G , CM000681.2:g.41410726A>G	GRCh38
NC_000019.9:g.41916631A>G , CM000681.1:g.41916631A>G	GRCh37
NC_000019.8:g.46608471A>G	NCBI36
NG_013004.1:g.17938A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000269980.7:c.198A>G MANE Select	ENSP00000269980.2:p.Glu66=
ENST00000269980.6:c.198A>G	ENSP00000269980.2:p.Glu66=
ENST00000457836.6:c.132A>G	ENSP00000416000.2:p.Glu44=
ENST00000538423.5:n.218A>G
ENST00000540732.3:c.300A>G	ENSP00000443246.1:p.Glu100=
ENST00000541315.1:c.5A>G
ENST00000542943.5:c.198A>G	ENSP00000440345.1:p.Glu66=
ENST00000595085.5:c.198A>G	ENSP00000471150.2:p.Glu66=
ENST00000604424.1:n.440A>G
NM_000709.3:c.198A>G	NP_000700.1:p.Glu66=
NM_001164783.1:c.198A>G	NP_001158255.1:p.Glu66=
NM_000709.4:c.198A>G MANE Select	NP_000700.1:p.Glu66=
NM_001164783.2:c.198A>G	NP_001158255.1:p.Glu66=