Canonical Allele Identifier: CA406015441
Gene: BCKDHA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41424525C>A , CM000681.2:g.41424525C>A GRCh38
NC_000019.9:g.41930430C>A , CM000681.1:g.41930430C>A GRCh37
NC_000019.8:g.46622270C>A NCBI36
NG_013004.1:g.31737C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000269980.7:c.1255C>A MANE Select ENSP00000269980.2:p.Gln419Lys
ENST00000269980.6:c.1255C>A ENSP00000269980.2:p.Gln419Lys
ENST00000457836.6:c.1264C>A ENSP00000416000.2:p.Gln422Lys
ENST00000540732.3:c.1357C>A ENSP00000443246.1:p.Gln453Lys
ENST00000544905.1:c.85C>A
ENST00000595085.5:c.922+1828C>A ENSP00000471150.2:n.922+1828C>A
NM_000709.3:c.1255C>A NP_000700.1:p.Gln419Lys
NM_001164783.1:c.1252C>A NP_001158255.1:p.Gln418Lys
NM_000709.4:c.1255C>A MANE Select NP_000700.1:p.Gln419Lys
NM_001164783.2:c.1252C>A NP_001158255.1:p.Gln418Lys