Canonical Allele Identifier: CA406004701

Gene: BCKDHA

Linked Data

• dbSNP Id: rs1476060196
• gnomAD v2: 19-41916622-T-G
• gnomAD v4: 19-41410717-T-G
• MyVariant Identifiers: chr19:g.41916622T>G (hg19) ; chr19:g.41410717T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41410717T>G , CM000681.2:g.41410717T>G	GRCh38
NC_000019.9:g.41916622T>G , CM000681.1:g.41916622T>G	GRCh37
NC_000019.8:g.46608462T>G	NCBI36
NG_013004.1:g.17929T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.189T>G MANE Select	ENSP00000269980.2:p.Asp63Glu
ENST00000269980.6:c.189T>G	ENSP00000269980.2:p.Asp63Glu
ENST00000457836.6:c.123T>G	ENSP00000416000.2:p.Asp41Glu
ENST00000538423.5:n.209T>G
ENST00000540732.3:c.291T>G	ENSP00000443246.1:p.Asp97Glu
ENST00000542943.5:c.189T>G	ENSP00000440345.1:p.Asp63Glu
ENST00000595085.5:c.189T>G	ENSP00000471150.2:p.Asp63Glu
ENST00000604424.1:n.431T>G
NM_000709.3:c.189T>G	NP_000700.1:p.Asp63Glu
NM_001164783.1:c.189T>G	NP_001158255.1:p.Asp63Glu
NM_000709.4:c.189T>G MANE Select	NP_000700.1:p.Asp63Glu
NM_001164783.2:c.189T>G	NP_001158255.1:p.Asp63Glu