Canonical Allele Identifier: CA406013744
Gene: BCKDHA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41423002G>C , CM000681.2:g.41423002G>C GRCh38
NC_000019.9:g.41928907G>C , CM000681.1:g.41928907G>C GRCh37
NC_000019.8:g.46620747G>C NCBI36
NG_013004.1:g.30214G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000269980.7:c.1000G>C MANE Select ENSP00000269980.2:p.Gly334Arg
ENST00000269980.6:c.1000G>C ENSP00000269980.2:p.Gly334Arg
ENST00000457836.6:c.1009G>C ENSP00000416000.2:p.Gly337Arg
ENST00000540732.3:c.1102G>C ENSP00000443246.1:p.Gly368Arg
ENST00000542943.5:c.913G>C ENSP00000440345.1:p.Gly305Arg
ENST00000595085.5:c.922+305G>C ENSP00000471150.2:n.922+305G>C
NM_000709.3:c.1000G>C NP_000700.1:p.Gly334Arg
NM_001164783.1:c.997G>C NP_001158255.1:p.Gly333Arg
NM_000709.4:c.1000G>C MANE Select NP_000700.1:p.Gly334Arg
NM_001164783.2:c.997G>C NP_001158255.1:p.Gly333Arg