Canonical Allele Identifier: CA406013072
Gene: BCKDHA HGNC NCBI
MyVariant.info:
GRCh38 chr19:g.41422361G>A
GRCh37 chr19:g.41928266G>A
Revel Score:
ENST00000540732 0.698
ENST00000269980 (MANE Select) 0.698
ENST00000542943 0.698
ENST00000457836 0.698
ENST00000378196 0.698
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41422361G>A , CM000681.2:g.41422361G>A GRCh38
NC_000019.9:g.41928266G>A , CM000681.1:g.41928266G>A GRCh37
NC_000019.8:g.46620106G>A NCBI36
NG_013004.1:g.29573G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000269980.7:c.844G>A MANE Select ENSP00000269980.2:p.Asp282Asn
ENST00000269980.6:c.844G>A ENSP00000269980.2:p.Asp282Asn
ENST00000457836.6:c.778G>A ENSP00000416000.2:p.Asp260Asn
ENST00000535632.5:n.473G>A
ENST00000540732.3:c.946G>A ENSP00000443246.1:p.Asp316Asn
ENST00000542943.5:c.757G>A ENSP00000440345.1:p.Asp253Asn
ENST00000545787.1:n.472G>A
ENST00000595085.5:c.844G>A ENSP00000471150.2:p.Asp282Asn
NM_000709.3:c.844G>A NP_000700.1:p.Asp282Asn
NM_001164783.1:c.844G>A NP_001158255.1:p.Asp282Asn
NM_000709.4:c.844G>A MANE Select NP_000700.1:p.Asp282Asn
NM_001164783.2:c.844G>A NP_001158255.1:p.Asp282Asn
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