Canonical Allele Identifier: CA354918
Gene: BCKDHA HGNC NCBI
MyVariant.info:
GRCh38 chr19:g.41422361G>C
GRCh37 chr19:g.41928266G>C
Revel Score:
ENST00000540732 0.878
ENST00000269980 (MANE Select) 0.878
ENST00000542943 0.878
ENST00000457836 0.878
ENST00000378196 0.878
ClinVar RCV:
RCV000209700
ClinVar Variation:
204377
dbSNP:
869312124
JSON-LD

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000269980.7:c.844G>C MANE Select ENSP00000269980.2:p.Asp282His
ENST00000269980.6:c.844G>C ENSP00000269980.2:p.Asp282His
ENST00000457836.6:c.778G>C ENSP00000416000.2:p.Asp260His
ENST00000535632.5:n.473G>C
ENST00000540732.3:c.946G>C ENSP00000443246.1:p.Asp316His
ENST00000542943.5:c.757G>C ENSP00000440345.1:p.Asp253His
ENST00000545787.1:n.472G>C
ENST00000595085.5:c.844G>C ENSP00000471150.2:p.Asp282His
NM_000709.3:c.844G>C NP_000700.1:p.Asp282His
NM_001164783.1:c.844G>C NP_001158255.1:p.Asp282His
NM_000709.4:c.844G>C MANE Select NP_000700.1:p.Asp282His
NM_001164783.2:c.844G>C NP_001158255.1:p.Asp282His
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