Canonical Allele Identifier: CA9461015
Gene: BCKDHA HGNC NCBI

Linked Data

ClinVar Variation Id: 722083
ClinVar RCV Id: RCV000895677 RCV001273300
dbSNP Id: rs576803251
ExAC: 19:41916607 G / A
gnomAD v2: 19-41916607-G-A
gnomAD v3: 19-41410702-G-A
gnomAD v4: 19-41410702-G-A
COSMIC: COSM5484306
MyVariant Identifiers: chr19:g.41916607G>A (hg19) chr19:g.41410702G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41410702G>A , CM000681.2:g.41410702G>A GRCh38
NC_000019.9:g.41916607G>A , CM000681.1:g.41916607G>A GRCh37
NC_000019.8:g.46608447G>A NCBI36
NG_013004.1:g.17914G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000269980.7:c.174G>A MANE Select ENSP00000269980.2:p.Ser58=
ENST00000269980.6:c.174G>A ENSP00000269980.2:p.Ser58=
ENST00000457836.6:c.108G>A ENSP00000416000.2:p.Ser36=
ENST00000538423.5:n.194G>A
ENST00000540732.3:c.276G>A ENSP00000443246.1:p.Ser92=
ENST00000542943.5:c.174G>A ENSP00000440345.1:p.Ser58=
ENST00000595085.5:c.174G>A ENSP00000471150.2:p.Ser58=
ENST00000604424.1:n.416G>A
NM_000709.3:c.174G>A NP_000700.1:p.Ser58=
NM_001164783.1:c.174G>A NP_001158255.1:p.Ser58=
NM_000709.4:c.174G>A MANE Select NP_000700.1:p.Ser58=
NM_001164783.2:c.174G>A NP_001158255.1:p.Ser58=
Search 100 bp 5'
Search 100 bp 3'