Canonical Allele Identifier: CA8021761

Gene: BCKDK

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.31111999A>T , CM000678.2:g.31111999A>T	GRCh38
NC_000016.9:g.31123320A>T , CM000678.1:g.31123320A>T	GRCh37
NC_000016.8:g.31030821A>T	NCBI36
NG_033011.1:g.8706A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_005881.4:c.1066A>T MANE Select	NP_005872.2:p.Ser356Cys
ENST00000219794.11:c.1066A>T MANE Select	ENSP00000219794.6:p.Ser356Cys
NM_001122957.2:c.1066A>T	NP_001116429.1:p.Ser356Cys
NM_001122957.3:c.1066A>T	NP_001116429.1:p.Ser356Cys
NM_001122957.4:c.1066A>T	NP_001116429.1:p.Ser356Cys
NM_001271926.1:c.976A>T	NP_001258855.1:p.Ser326Cys
NM_001271926.2:c.976A>T	NP_001258855.1:p.Ser326Cys
NM_001271926.3:c.976A>T	NP_001258855.1:p.Ser326Cys
NM_005881.3:c.1066A>T	NP_005872.2:p.Ser356Cys
ENST00000219794.10:c.1066A>T	ENSP00000219794.6:p.Ser356Cys
ENST00000287507.7:c.976A>T	ENSP00000287507.3:p.Ser326Cys
ENST00000394950.7:c.1066A>T	ENSP00000378404.3:p.Ser356Cys
ENST00000394951.5:c.1066A>T	ENSP00000378405.1:p.Ser356Cys
ENST00000566568.1:n.2084A>T
ENST00000567530.5:c.*338A>T	ENSP00000456479.1:n.*338A>T
ENST00000567682.1:c.153A>T
XM_017022859.1:c.1066A>T	XP_016878348.1:p.Ser356Cys