Canonical Allele Identifier: CA406012889

Gene: BCKDHA

Linked Data

• ClinVar Variation Id: 1520107
• ClinVar RCV Id: RCV002043878
• dbSNP Id: rs1213596075
• gnomAD v3: 19-41422275-C-G
• gnomAD v4: 19-41422275-C-G
• MyVariant Identifiers: chr19:g.41928180C>G (hg19) ; chr19:g.41422275C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422275C>G , CM000681.2:g.41422275C>G	GRCh38
NC_000019.9:g.41928180C>G , CM000681.1:g.41928180C>G	GRCh37
NC_000019.8:g.46620020C>G	NCBI36
NG_013004.1:g.29487C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.758C>G MANE Select	ENSP00000269980.2:p.Ala253Gly
ENST00000269980.6:c.758C>G	ENSP00000269980.2:p.Ala253Gly
ENST00000457836.6:c.692C>G	ENSP00000416000.2:p.Ala231Gly
ENST00000535632.5:n.387C>G
ENST00000540732.3:c.860C>G	ENSP00000443246.1:p.Ala287Gly
ENST00000542943.5:c.671C>G	ENSP00000440345.1:p.Ala224Gly
ENST00000545787.1:n.386C>G
ENST00000595085.5:c.758C>G	ENSP00000471150.2:p.Ala253Gly
NM_000709.3:c.758C>G	NP_000700.1:p.Ala253Gly
NM_001164783.1:c.758C>G	NP_001158255.1:p.Ala253Gly
NM_000709.4:c.758C>G MANE Select	NP_000700.1:p.Ala253Gly
NM_001164783.2:c.758C>G	NP_001158255.1:p.Ala253Gly