Canonical Allele Identifier: CA2336459282
Gene: BCKDHA HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41422787C= , CM000681.2:g.41422787C= GRCh38
NC_000019.9:g.41928692C= , CM000681.1:g.41928692C= GRCh37
NC_000019.8:g.46620532C= NCBI36
NG_013004.1:g.29999C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000269980.7:c.995+17C= MANE Select ENSP00000269980.2:n.995+17C=
ENST00000269980.6:c.995+17C= ENSP00000269980.2:n.995+17C=
ENST00000457836.6:c.929+17C= ENSP00000416000.2:n.929+17C=
ENST00000540732.3:c.1097+17C= ENSP00000443246.1:n.1097+17C=
ENST00000542943.5:c.908+17C= ENSP00000440345.1:n.908+17C=
ENST00000595085.5:c.922+90C= ENSP00000471150.2:n.922+90C=
NM_000709.3:c.995+17C= NP_000700.1:n.995+17C=
NM_001164783.1:c.992+17C= NP_001158255.1:n.992+17C=
NM_000709.4:c.995+17C= MANE Select NP_000700.1:n.995+17C=
NM_001164783.2:c.992+17C= NP_001158255.1:n.992+17C=
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