Canonical Allele Identifier: CA406008318

Gene: BCKDHA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41414142C>T , CM000681.2:g.41414142C>T	GRCh38
NC_000019.9:g.41920047C>T , CM000681.1:g.41920047C>T	GRCh37
NC_000019.8:g.46611887C>T	NCBI36
NG_013004.1:g.21354C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000709.4:c.469C>T MANE Select	NP_000700.1:p.Gln157Ter
ENST00000269980.7:c.469C>T MANE Select	ENSP00000269980.2:p.Gln157Ter
NM_000709.3:c.469C>T	NP_000700.1:p.Gln157Ter
NM_001164783.1:c.469C>T	NP_001158255.1:p.Gln157Ter
NM_001164783.2:c.469C>T	NP_001158255.1:p.Gln157Ter
ENST00000269980.6:c.469C>T	ENSP00000269980.2:p.Gln157Ter
ENST00000457836.6:c.403C>T	ENSP00000416000.2:p.Gln135Ter
ENST00000538423.5:n.595C>T
ENST00000540732.3:c.571C>T	ENSP00000443246.1:p.Gln191Ter
ENST00000541315.1:c.276C>T
ENST00000542943.5:c.382C>T	ENSP00000440345.1:p.Gln128Ter
ENST00000595085.5:c.469C>T	ENSP00000471150.2:p.Gln157Ter