Canonical Allele Identifier: CA406013364

Gene: BCKDHA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422679G>A , CM000681.2:g.41422679G>A	GRCh38
NC_000019.9:g.41928584G>A , CM000681.1:g.41928584G>A	GRCh37
NC_000019.8:g.46620424G>A	NCBI36
NG_013004.1:g.29891G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000709.4:c.904G>A MANE Select	NP_000700.1:p.Asp302Asn
ENST00000269980.7:c.904G>A MANE Select	ENSP00000269980.2:p.Asp302Asn
NM_000709.3:c.904G>A	NP_000700.1:p.Asp302Asn
NM_001164783.1:c.901G>A	NP_001158255.1:p.Asp301Asn
NM_001164783.2:c.901G>A	NP_001158255.1:p.Asp301Asn
ENST00000269980.6:c.904G>A	ENSP00000269980.2:p.Asp302Asn
ENST00000457836.6:c.838G>A	ENSP00000416000.2:p.Asp280Asn
ENST00000535632.5:n.533G>A
ENST00000540732.3:c.1006G>A	ENSP00000443246.1:p.Asp336Asn
ENST00000542943.5:c.817G>A	ENSP00000440345.1:p.Asp273Asn
ENST00000545787.1:n.532G>A
ENST00000595085.5:c.904G>A	ENSP00000471150.2:p.Asp302Asn