Canonical Allele Identifier: CA406012923
Gene: BCKDHA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41422291C>G , CM000681.2:g.41422291C>G GRCh38
NC_000019.9:g.41928196C>G , CM000681.1:g.41928196C>G GRCh37
NC_000019.8:g.46620036C>G NCBI36
NG_013004.1:g.29503C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000269980.7:c.774C>G MANE Select ENSP00000269980.2:p.Cys258Trp
ENST00000269980.6:c.774C>G ENSP00000269980.2:p.Cys258Trp
ENST00000457836.6:c.708C>G ENSP00000416000.2:p.Cys236Trp
ENST00000535632.5:n.403C>G
ENST00000540732.3:c.876C>G ENSP00000443246.1:p.Cys292Trp
ENST00000542943.5:c.687C>G ENSP00000440345.1:p.Cys229Trp
ENST00000545787.1:n.402C>G
ENST00000595085.5:c.774C>G ENSP00000471150.2:p.Cys258Trp
NM_000709.3:c.774C>G NP_000700.1:p.Cys258Trp
NM_001164783.1:c.774C>G NP_001158255.1:p.Cys258Trp
NM_000709.4:c.774C>G MANE Select NP_000700.1:p.Cys258Trp
NM_001164783.2:c.774C>G NP_001158255.1:p.Cys258Trp