Canonical Allele Identifier: CA9461367
Gene: BCKDHA HGNC NCBI
MyVariant.info:
GRCh38 chr19:g.41423083A>G
GRCh37 chr19:g.41928988A>G
Revel Score:
ENST00000540732 0.652
ENST00000269980 (MANE Select) 0.652
ENST00000457836 0.652
gnomAD v2:
19:41928988 A / G
gnomAD v3:
19:41423083 A / G
gnomAD v4:
chr19-41423083-A-G
Joint Max Group AF 0.0004398 (NFE)
Genomes Max Group AF 0.0002305 (NFE)
Exomes Max Group AF 0.00044607 (NFE)
ClinVar Allele:
469856
ClinVar RCV:
RCV000549241
RCV001536367
ClinVar Variation:
457140
dbSNP:
61736656
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41423083A>G , CM000681.2:g.41423083A>G GRCh38
NC_000019.9:g.41928988A>G , CM000681.1:g.41928988A>G GRCh37
NC_000019.8:g.46620828A>G NCBI36
NG_013004.1:g.30295A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000269980.7:c.1081A>G MANE Select ENSP00000269980.2:p.Ile361Val
ENST00000269980.6:c.1081A>G ENSP00000269980.2:p.Ile361Val
ENST00000457836.6:c.1090A>G ENSP00000416000.2:p.Ile364Val
ENST00000540732.3:c.1183A>G ENSP00000443246.1:p.Ile395Val
ENST00000595085.5:c.922+386A>G ENSP00000471150.2:n.922+386A>G
NM_000709.3:c.1081A>G NP_000700.1:p.Ile361Val
NM_001164783.1:c.1078A>G NP_001158255.1:p.Ile360Val
NM_000709.4:c.1081A>G MANE Select NP_000700.1:p.Ile361Val
NM_001164783.2:c.1078A>G NP_001158255.1:p.Ile360Val
Search 100 bp 5'
Search 100 bp 3'