Canonical Allele Identifier: CA406015184
Gene: BCKDHA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41424447G>A , CM000681.2:g.41424447G>A GRCh38
NC_000019.9:g.41930352G>A , CM000681.1:g.41930352G>A GRCh37
NC_000019.8:g.46622192G>A NCBI36
NG_013004.1:g.31659G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000269980.7:c.1177G>A MANE Select ENSP00000269980.2:p.Ala393Thr
ENST00000269980.6:c.1177G>A ENSP00000269980.2:p.Ala393Thr
ENST00000457836.6:c.1186G>A ENSP00000416000.2:p.Ala396Thr
ENST00000540732.3:c.1279G>A ENSP00000443246.1:p.Ala427Thr
ENST00000544905.1:c.62-55G>A
ENST00000595085.5:c.922+1750G>A ENSP00000471150.2:n.922+1750G>A
NM_000709.3:c.1177G>A NP_000700.1:p.Ala393Thr
NM_001164783.1:c.1174G>A NP_001158255.1:p.Ala392Thr
NM_000709.4:c.1177G>A MANE Select NP_000700.1:p.Ala393Thr
NM_001164783.2:c.1174G>A NP_001158255.1:p.Ala392Thr