Canonical Allele Identifier: CA406013716

Gene: BCKDHA

Linked Data

• dbSNP Id: rs2039386667
• gnomAD v3: 19-41422991-T-G
• gnomAD v4: 19-41422991-T-G
• MyVariant Identifiers: chr19:g.41928896T>G (hg19) ; chr19:g.41422991T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422991T>G , CM000681.2:g.41422991T>G	GRCh38
NC_000019.9:g.41928896T>G , CM000681.1:g.41928896T>G	GRCh37
NC_000019.8:g.46620736T>G	NCBI36
NG_013004.1:g.30203T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.996-7T>G MANE Select	ENSP00000269980.2:n.996-7T>G
ENST00000269980.6:c.996-7T>G	ENSP00000269980.2:n.996-7T>G
ENST00000457836.6:c.998T>G	ENSP00000416000.2:p.Leu333Arg
ENST00000540732.3:c.1098-7T>G	ENSP00000443246.1:n.1098-7T>G
ENST00000542943.5:c.909-7T>G	ENSP00000440345.1:n.909-7T>G
ENST00000595085.5:c.922+294T>G	ENSP00000471150.2:n.922+294T>G
NM_000709.3:c.996-7T>G	NP_000700.1:n.996-7T>G
NM_001164783.1:c.993-7T>G	NP_001158255.1:n.993-7T>G
NM_000709.4:c.996-7T>G MANE Select	NP_000700.1:n.996-7T>G
NM_001164783.2:c.993-7T>G	NP_001158255.1:n.993-7T>G