Canonical Allele Identifier: CA8021531

Gene: BCKDK

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.31109810C>T , CM000678.2:g.31109810C>T	GRCh38
NC_000016.9:g.31121131C>T , CM000678.1:g.31121131C>T	GRCh37
NC_000016.8:g.31028632C>T	NCBI36
NG_033011.1:g.6517C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_005881.4:c.375+27C>T MANE Select	NP_005872.2:n.375+27C>T
ENST00000219794.11:c.375+27C>T MANE Select	ENSP00000219794.6:n.375+27C>T
NM_001122957.2:c.375+27C>T	NP_001116429.1:n.375+27C>T
NM_001122957.3:c.375+27C>T	NP_001116429.1:n.375+27C>T
NM_001122957.4:c.375+27C>T	NP_001116429.1:n.375+27C>T
NM_001271926.1:c.375+27C>T	NP_001258855.1:n.375+27C>T
NM_001271926.2:c.375+27C>T	NP_001258855.1:n.375+27C>T
NM_001271926.3:c.375+27C>T	NP_001258855.1:n.375+27C>T
NM_005881.3:c.375+27C>T	NP_005872.2:n.375+27C>T
ENST00000219794.10:c.375+27C>T	ENSP00000219794.6:n.375+27C>T
ENST00000287507.7:c.375+27C>T	ENSP00000287507.3:n.375+27C>T
ENST00000394950.7:c.375+27C>T	ENSP00000378404.3:n.375+27C>T
ENST00000394951.5:c.375+27C>T	ENSP00000378405.1:n.375+27C>T
ENST00000484226.2:c.375+27C>T	ENSP00000457226.1:n.375+27C>T
ENST00000566568.1:n.610C>T
ENST00000567530.5:c.375+27C>T	ENSP00000456479.1:n.375+27C>T
XM_017022859.1:c.375+27C>T	XP_016878348.1:n.375+27C>T