Canonical Allele Identifier: CA406015186
Gene: BCKDHA HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000269980.7:c.1177G>C MANE Select ENSP00000269980.2:p.Ala393Pro
ENST00000269980.6:c.1177G>C ENSP00000269980.2:p.Ala393Pro
ENST00000457836.6:c.1186G>C ENSP00000416000.2:p.Ala396Pro
ENST00000540732.3:c.1279G>C ENSP00000443246.1:p.Ala427Pro
ENST00000544905.1:c.62-55G>C
ENST00000595085.5:c.922+1750G>C ENSP00000471150.2:n.922+1750G>C
NM_000709.3:c.1177G>C NP_000700.1:p.Ala393Pro
NM_001164783.1:c.1174G>C NP_001158255.1:p.Ala392Pro
NM_000709.4:c.1177G>C MANE Select NP_000700.1:p.Ala393Pro
NM_001164783.2:c.1174G>C NP_001158255.1:p.Ala392Pro