Canonical Allele Identifier: CA406008194

Gene: BCKDHA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41414127G>A , CM000681.2:g.41414127G>A	GRCh38
NC_000019.9:g.41920032G>A , CM000681.1:g.41920032G>A	GRCh37
NC_000019.8:g.46611872G>A	NCBI36
NG_013004.1:g.21339G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000709.4:c.454G>A MANE Select	NP_000700.1:p.Asp152Asn
ENST00000269980.7:c.454G>A MANE Select	ENSP00000269980.2:p.Asp152Asn
NM_000709.3:c.454G>A	NP_000700.1:p.Asp152Asn
NM_001164783.1:c.454G>A	NP_001158255.1:p.Asp152Asn
NM_001164783.2:c.454G>A	NP_001158255.1:p.Asp152Asn
ENST00000269980.6:c.454G>A	ENSP00000269980.2:p.Asp152Asn
ENST00000457836.6:c.388G>A	ENSP00000416000.2:p.Asp130Asn
ENST00000538423.5:n.580G>A
ENST00000540732.3:c.556G>A	ENSP00000443246.1:p.Asp186Asn
ENST00000541315.1:c.261G>A
ENST00000542943.5:c.367G>A	ENSP00000440345.1:p.Asp123Asn
ENST00000595085.5:c.454G>A	ENSP00000471150.2:p.Asp152Asn