Canonical Allele Identifier: CA9461009
Gene: BCKDHA HGNC NCBI
MyVariant.info:
GRCh38 chr19:g.41410665C>A
GRCh37 chr19:g.41916570C>A
gnomAD v2:
19:41916570 C / A
gnomAD v3:
19:41410665 C / A
gnomAD v4:
chr19-41410665-C-A
Joint Max Group AF 0.00000553 (AMR)
Genomes Max Group AF 0.00000488 (NFE)
Exomes Max Group AF 0.00000381 (NFE)
ClinVar RCV:
RCV000409408
ClinVar Variation:
370729
dbSNP:
376456598
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41410665C>A , CM000681.2:g.41410665C>A GRCh38
NC_000019.9:g.41916570C>A , CM000681.1:g.41916570C>A GRCh37
NC_000019.8:g.46608410C>A NCBI36
NG_013004.1:g.17877C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000269980.7:c.137C>A MANE Select ENSP00000269980.2:p.Ser46Ter
ENST00000269980.6:c.137C>A ENSP00000269980.2:p.Ser46Ter
ENST00000457836.6:c.71C>A ENSP00000416000.2:p.Ser24Ter
ENST00000538423.5:n.157C>A
ENST00000540732.3:c.239C>A ENSP00000443246.1:p.Ser80Ter
ENST00000542943.5:c.137C>A ENSP00000440345.1:p.Ser46Ter
ENST00000595085.5:c.137C>A ENSP00000471150.2:p.Ser46Ter
ENST00000604424.1:n.379C>A
NM_000709.3:c.137C>A NP_000700.1:p.Ser46Ter
NM_001164783.1:c.137C>A NP_001158255.1:p.Ser46Ter
NM_000709.4:c.137C>A MANE Select NP_000700.1:p.Ser46Ter
NM_001164783.2:c.137C>A NP_001158255.1:p.Ser46Ter
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