Canonical Allele Identifier: CA406005527

Gene: BCKDHA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41410952C>A , CM000681.2:g.41410952C>A	GRCh38
NC_000019.9:g.41916857C>A , CM000681.1:g.41916857C>A	GRCh37
NC_000019.8:g.46608697C>A	NCBI36
NG_013004.1:g.18164C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000709.4:c.318C>A MANE Select	NP_000700.1:p.Tyr106Ter
ENST00000269980.7:c.318C>A MANE Select	ENSP00000269980.2:p.Tyr106Ter
NM_000709.3:c.318C>A	NP_000700.1:p.Tyr106Ter
NM_001164783.1:c.318C>A	NP_001158255.1:p.Tyr106Ter
NM_001164783.2:c.318C>A	NP_001158255.1:p.Tyr106Ter
ENST00000269980.6:c.318C>A	ENSP00000269980.2:p.Tyr106Ter
ENST00000457836.6:c.252C>A	ENSP00000416000.2:p.Tyr84Ter
ENST00000538423.5:n.444C>A
ENST00000540732.3:c.420C>A	ENSP00000443246.1:p.Tyr140Ter
ENST00000541315.1:c.125C>A
ENST00000542943.5:c.288+136C>A	ENSP00000440345.1:n.288+136C>A
ENST00000595085.5:c.318C>A	ENSP00000471150.2:p.Tyr106Ter