Canonical Allele Identifier: CA8021444

Gene: BCKDK

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.31109309C>T , CM000678.2:g.31109309C>T	GRCh38
NC_000016.9:g.31120630C>T , CM000678.1:g.31120630C>T	GRCh37
NC_000016.8:g.31028131C>T	NCBI36
NG_033011.1:g.6016C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_005881.4:c.86C>T MANE Select	NP_005872.2:p.Ala29Val
ENST00000219794.11:c.86C>T MANE Select	ENSP00000219794.6:p.Ala29Val
NM_001122957.2:c.86C>T	NP_001116429.1:p.Ala29Val
NM_001122957.3:c.86C>T	NP_001116429.1:p.Ala29Val
NM_001122957.4:c.86C>T	NP_001116429.1:p.Ala29Val
NM_001271926.1:c.86C>T	NP_001258855.1:p.Ala29Val
NM_001271926.2:c.86C>T	NP_001258855.1:p.Ala29Val
NM_001271926.3:c.86C>T	NP_001258855.1:p.Ala29Val
NM_005881.3:c.86C>T	NP_005872.2:p.Ala29Val
ENST00000219794.10:c.86C>T	ENSP00000219794.6:p.Ala29Val
ENST00000287507.7:c.86C>T	ENSP00000287507.3:p.Ala29Val
ENST00000394950.7:c.86C>T	ENSP00000378404.3:p.Ala29Val
ENST00000394951.5:c.86C>T	ENSP00000378405.1:p.Ala29Val
ENST00000484226.2:c.86C>T	ENSP00000457226.1:p.Ala29Val
ENST00000561755.1:c.86C>T	ENSP00000455866.1:p.Ala29Val
ENST00000566568.1:n.294C>T
ENST00000567530.5:c.86C>T	ENSP00000456479.1:p.Ala29Val
ENST00000567676.1:c.86C>T	ENSP00000454947.1:p.Ala29Val
XM_017022859.1:c.86C>T	XP_016878348.1:p.Ala29Val