Canonical Allele Identifier: CA2585308218

Gene: BCKDHA

Linked Data

• ClinVar Variation Id: 3019442
• ClinVar RCV Id: RCV003872073
• gnomAD v4: 19-41422990-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422990C>T , CM000681.2:g.41422990C>T	GRCh38
NC_000019.9:g.41928895C>T , CM000681.1:g.41928895C>T	GRCh37
NC_000019.8:g.46620735C>T	NCBI36
NG_013004.1:g.30202C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.996-8C>T MANE Select	ENSP00000269980.2:n.996-8C>T
ENST00000269980.6:c.996-8C>T	ENSP00000269980.2:n.996-8C>T
ENST00000457836.6:c.997C>T	ENSP00000416000.2:p.Leu333=
ENST00000540732.3:c.1098-8C>T	ENSP00000443246.1:n.1098-8C>T
ENST00000542943.5:c.909-8C>T	ENSP00000440345.1:n.909-8C>T
ENST00000595085.5:c.922+293C>T	ENSP00000471150.2:n.922+293C>T
NM_000709.3:c.996-8C>T	NP_000700.1:n.996-8C>T
NM_001164783.1:c.993-8C>T	NP_001158255.1:n.993-8C>T
NM_000709.4:c.996-8C>T MANE Select	NP_000700.1:n.996-8C>T
NM_001164783.2:c.993-8C>T	NP_001158255.1:n.993-8C>T