Canonical Allele Identifier: CA308525418

Gene: BCKDHA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41423089C>T , CM000681.2:g.41423089C>T	GRCh38
NC_000019.9:g.41928994C>T , CM000681.1:g.41928994C>T	GRCh37
NC_000019.8:g.46620834C>T	NCBI36
NG_013004.1:g.30301C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000709.4:c.1087C>T MANE Select	NP_000700.1:p.Arg363Trp
ENST00000269980.7:c.1087C>T MANE Select	ENSP00000269980.2:p.Arg363Trp
NM_000709.3:c.1087C>T	NP_000700.1:p.Arg363Trp
NM_001164783.1:c.1084C>T	NP_001158255.1:p.Arg362Trp
NM_001164783.2:c.1084C>T	NP_001158255.1:p.Arg362Trp
ENST00000269980.6:c.1087C>T	ENSP00000269980.2:p.Arg363Trp
ENST00000457836.6:c.1096C>T	ENSP00000416000.2:p.Arg366Trp
ENST00000540732.3:c.1189C>T	ENSP00000443246.1:p.Arg397Trp
ENST00000595085.5:c.922+392C>T	ENSP00000471150.2:n.922+392C>T