Canonical Allele Identifier: CA221207
Gene: BCKDHA HGNC NCBI

Linked Data

ClinVar Variation Id: 93367
dbSNP Id: rs375785084

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41422176C>T , CM000681.2:g.41422176C>T GRCh38
NC_000019.9:g.41928081C>T , CM000681.1:g.41928081C>T GRCh37
NC_000019.8:g.46619921C>T NCBI36
NG_013004.1:g.29388C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000269980.7:c.659C>T MANE Select ENSP00000269980.2:p.Ala220Val
ENST00000269980.6:c.659C>T ENSP00000269980.2:p.Ala220Val
ENST00000457836.6:c.593C>T ENSP00000416000.2:p.Ala198Val
ENST00000535632.5:n.288C>T
ENST00000538423.5:n.785C>T
ENST00000540732.3:c.761C>T ENSP00000443246.1:p.Ala254Val
ENST00000541315.1:c.559C>T
ENST00000542943.5:c.572C>T ENSP00000440345.1:p.Ala191Val
ENST00000545787.1:n.287C>T
ENST00000595085.5:c.659C>T ENSP00000471150.2:p.Ala220Val
NM_000709.3:c.659C>T NP_000700.1:p.Ala220Val
NM_001164783.1:c.659C>T NP_001158255.1:p.Ala220Val
NM_000709.4:c.659C>T MANE Select NP_000700.1:p.Ala220Val
NM_001164783.2:c.659C>T NP_001158255.1:p.Ala220Val