Canonical Allele Identifier: CA2336460071
Gene: BCKDHA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41424553C= , CM000681.2:g.41424553C= GRCh38
NC_000019.9:g.41930458C= , CM000681.1:g.41930458C= GRCh37
NC_000019.8:g.46622298C= NCBI36
NG_013004.1:g.31765C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000269980.7:c.1283C= MANE Select ENSP00000269980.2:p.Ala428=
ENST00000269980.6:c.1283C= ENSP00000269980.2:p.Ala428=
ENST00000457836.6:c.1292C= ENSP00000416000.2:p.Ala431=
ENST00000540732.3:c.1385C= ENSP00000443246.1:p.Ala462=
ENST00000544905.1:c.113C=
ENST00000595085.5:c.922+1856C= ENSP00000471150.2:n.922+1856C=
NM_000709.3:c.1283C= NP_000700.1:p.Ala428=
NM_001164783.1:c.1280C= NP_001158255.1:p.Ala427=
NM_000709.4:c.1283C= MANE Select NP_000700.1:p.Ala428=
NM_001164783.2:c.1280C= NP_001158255.1:p.Ala427=