Canonical Allele Identifier: CA406010420

Gene: BCKDHA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41419135G>A , CM000681.2:g.41419135G>A	GRCh38
NC_000019.9:g.41925040G>A , CM000681.1:g.41925040G>A	GRCh37
NC_000019.8:g.46616880G>A	NCBI36
NG_013004.1:g.26347G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000709.4:c.485G>A MANE Select	NP_000700.1:p.Gly162Asp
ENST00000269980.7:c.485G>A MANE Select	ENSP00000269980.2:p.Gly162Asp
NM_000709.3:c.485G>A	NP_000700.1:p.Gly162Asp
NM_001164783.1:c.485G>A	NP_001158255.1:p.Gly162Asp
NM_001164783.2:c.485G>A	NP_001158255.1:p.Gly162Asp
ENST00000269980.6:c.485G>A	ENSP00000269980.2:p.Gly162Asp
ENST00000457836.6:c.419G>A	ENSP00000416000.2:p.Gly140Asp
ENST00000535632.5:n.114G>A
ENST00000538423.5:n.611G>A
ENST00000540732.3:c.587G>A	ENSP00000443246.1:p.Gly196Asp
ENST00000541315.1:c.385G>A
ENST00000542943.5:c.398G>A	ENSP00000440345.1:p.Gly133Asp
ENST00000545787.1:n.113G>A
ENST00000595085.5:c.485G>A	ENSP00000471150.2:p.Gly162Asp