Canonical Allele Identifier: CA9461081
Gene: BCKDHA HGNC NCBI

Linked Data

ClinVar Variation Id: 709510
ClinVar RCV Id: RCV000880930 RCV001273303 RCV002434172 RCV003955819
dbSNP Id: rs142967869
ExAC: 19:41916833 G / A
gnomAD v2: 19-41916833-G-A
gnomAD v3: 19-41410928-G-A
gnomAD v4: 19-41410928-G-A
MyVariant Identifiers: chr19:g.41916833G>A (hg19) chr19:g.41410928G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41410928G>A , CM000681.2:g.41410928G>A GRCh38
NC_000019.9:g.41916833G>A , CM000681.1:g.41916833G>A GRCh37
NC_000019.8:g.46608673G>A NCBI36
NG_013004.1:g.18140G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000269980.7:c.294G>A MANE Select ENSP00000269980.2:p.Pro98=
ENST00000269980.6:c.294G>A ENSP00000269980.2:p.Pro98=
ENST00000457836.6:c.228G>A ENSP00000416000.2:p.Pro76=
ENST00000538423.5:n.420G>A
ENST00000540732.3:c.396G>A ENSP00000443246.1:p.Pro132=
ENST00000541315.1:c.101G>A
ENST00000542943.5:c.288+112G>A ENSP00000440345.1:n.288+112G>A
ENST00000595085.5:c.294G>A ENSP00000471150.2:p.Pro98=
NM_000709.3:c.294G>A NP_000700.1:p.Pro98=
NM_001164783.1:c.294G>A NP_001158255.1:p.Pro98=
NM_000709.4:c.294G>A MANE Select NP_000700.1:p.Pro98=
NM_001164783.2:c.294G>A NP_001158255.1:p.Pro98=
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