Canonical Allele Identifier: CA406013731
Gene: BCKDHA HGNC NCBI

Linked Data

ClinVar Variation Id: 2680120
ClinVar RCV Id: RCV003465158

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41422997G>A , CM000681.2:g.41422997G>A GRCh38
NC_000019.9:g.41928902G>A , CM000681.1:g.41928902G>A GRCh37
NC_000019.8:g.46620742G>A NCBI36
NG_013004.1:g.30209G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000269980.7:c.996-1G>A MANE Select ENSP00000269980.2:n.996-1G>A
ENST00000269980.6:c.996-1G>A ENSP00000269980.2:n.996-1G>A
ENST00000457836.6:c.1004G>A ENSP00000416000.2:p.Arg335Lys
ENST00000540732.3:c.1098-1G>A ENSP00000443246.1:n.1098-1G>A
ENST00000542943.5:c.909-1G>A ENSP00000440345.1:n.909-1G>A
ENST00000595085.5:c.922+300G>A ENSP00000471150.2:n.922+300G>A
NM_000709.3:c.996-1G>A NP_000700.1:n.996-1G>A
NM_001164783.1:c.993-1G>A NP_001158255.1:n.993-1G>A
NM_000709.4:c.996-1G>A MANE Select NP_000700.1:n.996-1G>A
NM_001164783.2:c.993-1G>A NP_001158255.1:n.993-1G>A