Canonical Allele Identifier: CA406013419

Gene: BCKDHA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422706A>T , CM000681.2:g.41422706A>T	GRCh38
NC_000019.9:g.41928611A>T , CM000681.1:g.41928611A>T	GRCh37
NC_000019.8:g.46620451A>T	NCBI36
NG_013004.1:g.29918A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000709.4:c.931A>T MANE Select	NP_000700.1:p.Lys311Ter
ENST00000269980.7:c.931A>T MANE Select	ENSP00000269980.2:p.Lys311Ter
NM_000709.3:c.931A>T	NP_000700.1:p.Lys311Ter
NM_001164783.1:c.928A>T	NP_001158255.1:p.Lys310Ter
NM_001164783.2:c.928A>T	NP_001158255.1:p.Lys310Ter
ENST00000269980.6:c.931A>T	ENSP00000269980.2:p.Lys311Ter
ENST00000457836.6:c.865A>T	ENSP00000416000.2:p.Lys289Ter
ENST00000535632.5:n.560A>T
ENST00000540732.3:c.1033A>T	ENSP00000443246.1:p.Lys345Ter
ENST00000542943.5:c.844A>T	ENSP00000440345.1:p.Lys282Ter
ENST00000545787.1:n.559A>T
ENST00000595085.5:c.922+9A>T	ENSP00000471150.2:n.922+9A>T