Canonical Allele Identifier: CA221196

Gene: BCKDHA

Linked Data

• ClinVar Variation Id: 93354
• ClinVar RCV Id: RCV000079236 ; RCV001283813 ; RCV003987352
• dbSNP Id: rs398123498
• MyVariant Identifiers: chr19:g.41916886A>G (hg19) ; chr19:g.41410981A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41410981A>G , CM000681.2:g.41410981A>G	GRCh38
NC_000019.9:g.41916886A>G , CM000681.1:g.41916886A>G	GRCh37
NC_000019.8:g.46608726A>G	NCBI36
NG_013004.1:g.18193A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.347A>G MANE Select	ENSP00000269980.2:p.Asp116Gly
ENST00000269980.6:c.347A>G	ENSP00000269980.2:p.Asp116Gly
ENST00000457836.6:c.281A>G	ENSP00000416000.2:p.Asp94Gly
ENST00000538423.5:n.473A>G
ENST00000540732.3:c.449A>G	ENSP00000443246.1:p.Asp150Gly
ENST00000541315.1:c.154A>G
ENST00000542943.5:c.288+165A>G	ENSP00000440345.1:n.288+165A>G
ENST00000595085.5:c.347A>G	ENSP00000471150.2:p.Asp116Gly
NM_000709.3:c.347A>G	NP_000700.1:p.Asp116Gly
NM_001164783.1:c.347A>G	NP_001158255.1:p.Asp116Gly
NM_000709.4:c.347A>G MANE Select	NP_000700.1:p.Asp116Gly
NM_001164783.2:c.347A>G	NP_001158255.1:p.Asp116Gly