Canonical Allele Identifier: CA406014060

Gene: BCKDHA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41423123G>A , CM000681.2:g.41423123G>A	GRCh38
NC_000019.9:g.41929028G>A , CM000681.1:g.41929028G>A	GRCh37
NC_000019.8:g.46620868G>A	NCBI36
NG_013004.1:g.30335G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000709.4:c.1121G>A MANE Select	NP_000700.1:p.Trp374Ter
ENST00000269980.7:c.1121G>A MANE Select	ENSP00000269980.2:p.Trp374Ter
NM_000709.3:c.1121G>A	NP_000700.1:p.Trp374Ter
NM_001164783.1:c.1118G>A	NP_001158255.1:p.Trp373Ter
NM_001164783.2:c.1118G>A	NP_001158255.1:p.Trp373Ter
ENST00000269980.6:c.1121G>A	ENSP00000269980.2:p.Trp374Ter
ENST00000457836.6:c.1130G>A	ENSP00000416000.2:p.Trp377Ter
ENST00000540732.3:c.1223G>A	ENSP00000443246.1:p.Trp408Ter
ENST00000544905.1:c.15G>A
ENST00000595085.5:c.922+426G>A	ENSP00000471150.2:n.922+426G>A