Canonical Allele Identifier: CA233530

Gene: BCKDK

Linked Data

• ClinVar Variation Id: 166744
• ClinVar RCV Id: RCV000152851
• dbSNP Id: rs727503823
• gnomAD v4: 16-31110771-G-C
• MyVariant Identifiers: chr16:g.31122092G>C (hg19) ; chr16:g.31110771G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.31110771G>C , CM000678.2:g.31110771G>C	GRCh38
NC_000016.9:g.31122092G>C , CM000678.1:g.31122092G>C	GRCh37
NC_000016.8:g.31029593G>C	NCBI36
NG_033011.1:g.7478G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000219794.11:c.716+10G>C MANE Select	ENSP00000219794.6:n.716+10G>C
ENST00000219794.10:c.716+10G>C	ENSP00000219794.6:n.716+10G>C
ENST00000287507.7:c.716+10G>C	ENSP00000287507.3:n.716+10G>C
ENST00000394950.7:c.716+10G>C	ENSP00000378404.3:n.716+10G>C
ENST00000394951.5:c.716+10G>C	ENSP00000378405.1:n.716+10G>C
ENST00000566568.1:n.1415G>C
ENST00000567530.5:c.642+272G>C	ENSP00000456479.1:n.642+272G>C
NM_001122957.2:c.716+10G>C	NP_001116429.1:n.716+10G>C
NM_001271926.1:c.716+10G>C	NP_001258855.1:n.716+10G>C
NM_005881.3:c.716+10G>C	NP_005872.2:n.716+10G>C
XM_017022859.1:c.716+10G>C	XP_016878348.1:n.716+10G>C
NM_005881.4:c.716+10G>C MANE Select	NP_005872.2:n.716+10G>C
NM_001122957.3:c.716+10G>C	NP_001116429.1:n.716+10G>C
NM_001271926.2:c.716+10G>C	NP_001258855.1:n.716+10G>C
NM_001122957.4:c.716+10G>C	NP_001116429.1:n.716+10G>C
NM_001271926.3:c.716+10G>C	NP_001258855.1:n.716+10G>C