Canonical Allele Identifier: CA9461251
Gene: BCKDHA HGNC NCBI

Linked Data

ClinVar Variation Id: 971839
ClinVar RCV Id: RCV001247715
dbSNP Id: rs536540966
ExAC: 19:41928158 G / A
gnomAD v2: 19-41928158-G-A
gnomAD v3: 19-41422253-G-A
gnomAD v4: 19-41422253-G-A
COSMIC: COSM189638
MyVariant Identifiers: chr19:g.41928158G>A (hg19) chr19:g.41422253G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41422253G>A , CM000681.2:g.41422253G>A GRCh38
NC_000019.9:g.41928158G>A , CM000681.1:g.41928158G>A GRCh37
NC_000019.8:g.46619998G>A NCBI36
NG_013004.1:g.29465G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000269980.7:c.736G>A MANE Select ENSP00000269980.2:p.Ala246Thr
ENST00000269980.6:c.736G>A ENSP00000269980.2:p.Ala246Thr
ENST00000457836.6:c.670G>A ENSP00000416000.2:p.Ala224Thr
ENST00000535632.5:n.365G>A
ENST00000540732.3:c.838G>A ENSP00000443246.1:p.Ala280Thr
ENST00000542943.5:c.649G>A ENSP00000440345.1:p.Ala217Thr
ENST00000545787.1:n.364G>A
ENST00000595085.5:c.736G>A ENSP00000471150.2:p.Ala246Thr
NM_000709.3:c.736G>A NP_000700.1:p.Ala246Thr
NM_001164783.1:c.736G>A NP_001158255.1:p.Ala246Thr
NM_000709.4:c.736G>A MANE Select NP_000700.1:p.Ala246Thr
NM_001164783.2:c.736G>A NP_001158255.1:p.Ala246Thr
Search 100 bp 5'
Search 100 bp 3'