Canonical Allele Identifier: CA233531

Gene: BCKDK

Linked Data

• ClinVar Variation Id: 166745
• ClinVar RCV Id: RCV000152852 ; RCV001334466 ; RCV002516070
• dbSNP Id: rs118042732
• ExAC: 16:31122618 T / A
• gnomAD v2: 16-31122618-T-A
• gnomAD v3: 16-31111297-T-A
• gnomAD v4: 16-31111297-T-A
• MyVariant Identifiers: chr16:g.31122618T>A (hg19) ; chr16:g.31111297T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.31111297T>A , CM000678.2:g.31111297T>A	GRCh38
NC_000016.9:g.31122618T>A , CM000678.1:g.31122618T>A	GRCh37
NC_000016.8:g.31030119T>A	NCBI36
NG_033011.1:g.8004T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000219794.11:c.846-3T>A MANE Select	ENSP00000219794.6:n.846-3T>A
ENST00000219794.10:c.846-3T>A	ENSP00000219794.6:n.846-3T>A
ENST00000287507.7:c.845+78T>A	ENSP00000287507.3:n.845+78T>A
ENST00000394950.7:c.846-3T>A	ENSP00000378404.3:n.846-3T>A
ENST00000394951.5:c.846-3T>A	ENSP00000378405.1:n.846-3T>A
ENST00000566568.1:n.1864-3T>A
ENST00000567530.5:c.*118-3T>A	ENSP00000456479.1:n.*118-3T>A
NM_001122957.2:c.846-3T>A	NP_001116429.1:n.846-3T>A
NM_001271926.1:c.845+78T>A	NP_001258855.1:n.845+78T>A
NM_005881.3:c.846-3T>A	NP_005872.2:n.846-3T>A
XM_017022859.1:c.846-3T>A	XP_016878348.1:n.846-3T>A
NM_005881.4:c.846-3T>A MANE Select	NP_005872.2:n.846-3T>A
NM_001122957.3:c.846-3T>A	NP_001116429.1:n.846-3T>A
NM_001271926.2:c.845+78T>A	NP_001258855.1:n.845+78T>A
NM_001122957.4:c.846-3T>A	NP_001116429.1:n.846-3T>A
NM_001271926.3:c.845+78T>A	NP_001258855.1:n.845+78T>A