Canonical Allele Identifier: CA9461078
Gene: BCKDHA HGNC NCBI

Linked Data

ClinVar Variation Id: 1115872
ClinVar RCV Id: RCV001444075
dbSNP Id: rs765966197
ExAC: 19:41916824 G / A
gnomAD v2: 19-41916824-G-A
gnomAD v3: 19-41410919-G-A
gnomAD v4: 19-41410919-G-A
MyVariant Identifiers: chr19:g.41916824G>A (hg19) chr19:g.41410919G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41410919G>A , CM000681.2:g.41410919G>A GRCh38
NC_000019.9:g.41916824G>A , CM000681.1:g.41916824G>A GRCh37
NC_000019.8:g.46608664G>A NCBI36
NG_013004.1:g.18131G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000269980.7:c.289-4G>A MANE Select ENSP00000269980.2:n.289-4G>A
ENST00000269980.6:c.289-4G>A ENSP00000269980.2:n.289-4G>A
ENST00000457836.6:c.223-4G>A ENSP00000416000.2:n.223-4G>A
ENST00000538423.5:n.411G>A
ENST00000540732.3:c.391-4G>A ENSP00000443246.1:n.391-4G>A
ENST00000541315.1:c.96-4G>A
ENST00000542943.5:c.288+103G>A ENSP00000440345.1:n.288+103G>A
ENST00000595085.5:c.289-4G>A ENSP00000471150.2:n.289-4G>A
NM_000709.3:c.289-4G>A NP_000700.1:n.289-4G>A
NM_001164783.1:c.289-4G>A NP_001158255.1:n.289-4G>A
NM_000709.4:c.289-4G>A MANE Select NP_000700.1:n.289-4G>A
NM_001164783.2:c.289-4G>A NP_001158255.1:n.289-4G>A
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