Canonical Allele Identifier: CA130512

Gene: BCKDK

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.31110716G>C , CM000678.2:g.31110716G>C	GRCh38
NC_000016.9:g.31122037G>C , CM000678.1:g.31122037G>C	GRCh37
NC_000016.8:g.31029538G>C	NCBI36
NG_033011.1:g.7423G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000219794.11:c.671G>C MANE Select	ENSP00000219794.6:p.Arg224Pro
ENST00000219794.10:c.671G>C	ENSP00000219794.6:p.Arg224Pro
ENST00000287507.7:c.671G>C	ENSP00000287507.3:p.Arg224Pro
ENST00000394950.7:c.671G>C	ENSP00000378404.3:p.Arg224Pro
ENST00000394951.5:c.671G>C	ENSP00000378405.1:p.Arg224Pro
ENST00000484226.2:c.644G>C	ENSP00000457226.1:p.Arg215Pro
ENST00000566568.1:n.1360G>C
ENST00000567530.5:c.642+217G>C	ENSP00000456479.1:n.642+217G>C
NM_001122957.2:c.671G>C	NP_001116429.1:p.Arg224Pro
NM_001271926.1:c.671G>C	NP_001258855.1:p.Arg224Pro
NM_005881.3:c.671G>C	NP_005872.2:p.Arg224Pro
XM_017022859.1:c.671G>C	XP_016878348.1:p.Arg224Pro
NM_005881.4:c.671G>C MANE Select	NP_005872.2:p.Arg224Pro
NM_001122957.3:c.671G>C	NP_001116429.1:p.Arg224Pro
NM_001271926.2:c.671G>C	NP_001258855.1:p.Arg224Pro
NM_001122957.4:c.671G>C	NP_001116429.1:p.Arg224Pro
NM_001271926.3:c.671G>C	NP_001258855.1:p.Arg224Pro