Canonical Allele Identifier: CA2336459298
Gene: BCKDHA HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41422813G= , CM000681.2:g.41422813G= GRCh38
NC_000019.9:g.41928718G= , CM000681.1:g.41928718G= GRCh37
NC_000019.8:g.46620558G= NCBI36
NG_013004.1:g.30025G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000269980.7:c.995+43G= MANE Select ENSP00000269980.2:n.995+43G=
ENST00000269980.6:c.995+43G= ENSP00000269980.2:n.995+43G=
ENST00000457836.6:c.929+43G= ENSP00000416000.2:n.929+43G=
ENST00000540732.3:c.1097+43G= ENSP00000443246.1:n.1097+43G=
ENST00000542943.5:c.908+43G= ENSP00000440345.1:n.908+43G=
ENST00000595085.5:c.922+116G= ENSP00000471150.2:n.922+116G=
NM_000709.3:c.995+43G= NP_000700.1:n.995+43G=
NM_001164783.1:c.992+43G= NP_001158255.1:n.992+43G=
NM_000709.4:c.995+43G= MANE Select NP_000700.1:n.995+43G=
NM_001164783.2:c.992+43G= NP_001158255.1:n.992+43G=
Search 100 bp 5'
Search 100 bp 3'