Canonical Allele Identifier: CA221220
Gene: BCKDHA HGNC NCBI
MyVariant.info:
GRCh38 chr19:g.41422370G>C
GRCh37 chr19:g.41928275G>C
Revel Score:
ENST00000540732 0.943
ENST00000269980 (MANE Select) 0.943
ENST00000542943 0.943
ENST00000457836 0.943
ENST00000378196 0.943
gnomAD v2:
19:41928275 G / C
gnomAD v3:
19:41422370 G / C
gnomAD v4:
chr19-41422370-G-C
Joint Max Group AF 0.00005957 (NFE)
Genomes Max Group AF 0.00007908 (NFE)
Exomes Max Group AF 0.0000551 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41422370G>C , CM000681.2:g.41422370G>C GRCh38
NC_000019.9:g.41928275G>C , CM000681.1:g.41928275G>C GRCh37
NC_000019.8:g.46620115G>C NCBI36
NG_013004.1:g.29582G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000269980.7:c.853G>C MANE Select ENSP00000269980.2:p.Ala285Pro
ENST00000269980.6:c.853G>C ENSP00000269980.2:p.Ala285Pro
ENST00000457836.6:c.787G>C ENSP00000416000.2:p.Ala263Pro
ENST00000535632.5:n.482G>C
ENST00000540732.3:c.955G>C ENSP00000443246.1:p.Ala319Pro
ENST00000542943.5:c.766G>C ENSP00000440345.1:p.Ala256Pro
ENST00000545787.1:n.481G>C
ENST00000595085.5:c.853G>C ENSP00000471150.2:p.Ala285Pro
NM_000709.3:c.853G>C NP_000700.1:p.Ala285Pro
NM_001164783.1:c.853G>C NP_001158255.1:p.Ala285Pro
NM_000709.4:c.853G>C MANE Select NP_000700.1:p.Ala285Pro
NM_001164783.2:c.853G>C NP_001158255.1:p.Ala285Pro
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