Canonical Allele Identifier: CA406013886

Gene: BCKDHA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41423064G>A , CM000681.2:g.41423064G>A	GRCh38
NC_000019.9:g.41928969G>A , CM000681.1:g.41928969G>A	GRCh37
NC_000019.8:g.46620809G>A	NCBI36
NG_013004.1:g.30276G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000709.4:c.1062G>A MANE Select	NP_000700.1:p.Trp354Ter
ENST00000269980.7:c.1062G>A MANE Select	ENSP00000269980.2:p.Trp354Ter
NM_000709.3:c.1062G>A	NP_000700.1:p.Trp354Ter
NM_001164783.1:c.1059G>A	NP_001158255.1:p.Trp353Ter
NM_001164783.2:c.1059G>A	NP_001158255.1:p.Trp353Ter
ENST00000269980.6:c.1062G>A	ENSP00000269980.2:p.Trp354Ter
ENST00000457836.6:c.1071G>A	ENSP00000416000.2:p.Trp357Ter
ENST00000540732.3:c.1164G>A	ENSP00000443246.1:p.Trp388Ter
ENST00000542943.5:c.975G>A	ENSP00000440345.1:p.Trp325Ter
ENST00000595085.5:c.922+367G>A	ENSP00000471150.2:n.922+367G>A