Canonical Allele Identifier: CA406013729

Gene: BCKDHA

Linked Data

• ClinVar Variation Id: 1493182
• ClinVar RCV Id: RCV001984178
• dbSNP Id: rs2122146208
• gnomAD v4: 19-41422996-A-G
• MyVariant Identifiers: chr19:g.41928901A>G (hg19) ; chr19:g.41422996A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422996A>G , CM000681.2:g.41422996A>G	GRCh38
NC_000019.9:g.41928901A>G , CM000681.1:g.41928901A>G	GRCh37
NC_000019.8:g.46620741A>G	NCBI36
NG_013004.1:g.30208A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.996-2A>G MANE Select	ENSP00000269980.2:n.996-2A>G
ENST00000269980.6:c.996-2A>G	ENSP00000269980.2:n.996-2A>G
ENST00000457836.6:c.1003A>G	ENSP00000416000.2:p.Arg335Gly
ENST00000540732.3:c.1098-2A>G	ENSP00000443246.1:n.1098-2A>G
ENST00000542943.5:c.909-2A>G	ENSP00000440345.1:n.909-2A>G
ENST00000595085.5:c.922+299A>G	ENSP00000471150.2:n.922+299A>G
NM_000709.3:c.996-2A>G	NP_000700.1:n.996-2A>G
NM_001164783.1:c.993-2A>G	NP_001158255.1:n.993-2A>G
NM_000709.4:c.996-2A>G MANE Select	NP_000700.1:n.996-2A>G
NM_001164783.2:c.993-2A>G	NP_001158255.1:n.993-2A>G