Canonical Allele Identifier: CA406015257

Gene: BCKDHA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41424462G>T , CM000681.2:g.41424462G>T	GRCh38
NC_000019.9:g.41930367G>T , CM000681.1:g.41930367G>T	GRCh37
NC_000019.8:g.46622207G>T	NCBI36
NG_013004.1:g.31674G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000709.4:c.1192G>T MANE Select	NP_000700.1:p.Glu398Ter
ENST00000269980.7:c.1192G>T MANE Select	ENSP00000269980.2:p.Glu398Ter
NM_000709.3:c.1192G>T	NP_000700.1:p.Glu398Ter
NM_001164783.1:c.1189G>T	NP_001158255.1:p.Glu397Ter
NM_001164783.2:c.1189G>T	NP_001158255.1:p.Glu397Ter
ENST00000269980.6:c.1192G>T	ENSP00000269980.2:p.Glu398Ter
ENST00000457836.6:c.1201G>T	ENSP00000416000.2:p.Glu401Ter
ENST00000540732.3:c.1294G>T	ENSP00000443246.1:p.Glu432Ter
ENST00000544905.1:c.62-40G>T
ENST00000595085.5:c.922+1765G>T	ENSP00000471150.2:n.922+1765G>T