Canonical Allele Identifier: CA9461128
Gene: BCKDHA HGNC NCBI

Linked Data

dbSNP Id: rs745500699

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41414055A>G , CM000681.2:g.41414055A>G GRCh38
NC_000019.9:g.41919960A>G , CM000681.1:g.41919960A>G GRCh37
NC_000019.8:g.46611800A>G NCBI36
NG_013004.1:g.21267A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000269980.7:c.382A>G MANE Select ENSP00000269980.2:p.Ile128Val
ENST00000269980.6:c.382A>G ENSP00000269980.2:p.Ile128Val
ENST00000457836.6:c.316A>G ENSP00000416000.2:p.Ile106Val
ENST00000538423.5:n.508A>G
ENST00000540732.3:c.484A>G ENSP00000443246.1:p.Ile162Val
ENST00000541315.1:c.189A>G
ENST00000542943.5:c.295A>G ENSP00000440345.1:p.Ile99Val
ENST00000595085.5:c.382A>G ENSP00000471150.2:p.Ile128Val
NM_000709.3:c.382A>G NP_000700.1:p.Ile128Val
NM_001164783.1:c.382A>G NP_001158255.1:p.Ile128Val
NM_000709.4:c.382A>G MANE Select NP_000700.1:p.Ile128Val
NM_001164783.2:c.382A>G NP_001158255.1:p.Ile128Val