Canonical Allele Identifier: CA9461401
Gene: BCKDHA HGNC NCBI

Linked Data

ClinVar Variation Id: 329368
ClinVar RCV Id: RCV000363793 RCV001828325
dbSNP Id: rs201168715
ExAC: 19:41930367 G / A
gnomAD v2: 19-41930367-G-A
gnomAD v3: 19-41424462-G-A
gnomAD v4: 19-41424462-G-A
MyVariant Identifiers: chr19:g.41930367G>A (hg19) chr19:g.41424462G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41424462G>A , CM000681.2:g.41424462G>A GRCh38
NC_000019.9:g.41930367G>A , CM000681.1:g.41930367G>A GRCh37
NC_000019.8:g.46622207G>A NCBI36
NG_013004.1:g.31674G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000269980.7:c.1192G>A MANE Select ENSP00000269980.2:p.Glu398Lys
ENST00000269980.6:c.1192G>A ENSP00000269980.2:p.Glu398Lys
ENST00000457836.6:c.1201G>A ENSP00000416000.2:p.Glu401Lys
ENST00000540732.3:c.1294G>A ENSP00000443246.1:p.Glu432Lys
ENST00000544905.1:c.62-40G>A
ENST00000595085.5:c.922+1765G>A ENSP00000471150.2:n.922+1765G>A
NM_000709.3:c.1192G>A NP_000700.1:p.Glu398Lys
NM_001164783.1:c.1189G>A NP_001158255.1:p.Glu397Lys
NM_000709.4:c.1192G>A MANE Select NP_000700.1:p.Glu398Lys
NM_001164783.2:c.1189G>A NP_001158255.1:p.Glu397Lys
Search 100 bp 5'
Search 100 bp 3'