Canonical Allele Identifier: CA406005545

Gene: BCKDHA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41410953A>T , CM000681.2:g.41410953A>T	GRCh38
NC_000019.9:g.41916858A>T , CM000681.1:g.41916858A>T	GRCh37
NC_000019.8:g.46608698A>T	NCBI36
NG_013004.1:g.18165A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000709.4:c.319A>T MANE Select	NP_000700.1:p.Lys107Ter
ENST00000269980.7:c.319A>T MANE Select	ENSP00000269980.2:p.Lys107Ter
NM_000709.3:c.319A>T	NP_000700.1:p.Lys107Ter
NM_001164783.1:c.319A>T	NP_001158255.1:p.Lys107Ter
NM_001164783.2:c.319A>T	NP_001158255.1:p.Lys107Ter
ENST00000269980.6:c.319A>T	ENSP00000269980.2:p.Lys107Ter
ENST00000457836.6:c.253A>T	ENSP00000416000.2:p.Lys85Ter
ENST00000538423.5:n.445A>T
ENST00000540732.3:c.421A>T	ENSP00000443246.1:p.Lys141Ter
ENST00000541315.1:c.126A>T
ENST00000542943.5:c.288+137A>T	ENSP00000440345.1:n.288+137A>T
ENST00000595085.5:c.319A>T	ENSP00000471150.2:p.Lys107Ter