Canonical Allele Identifier: CA406013826
Gene: BCKDHA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41423037C>A , CM000681.2:g.41423037C>A GRCh38
NC_000019.9:g.41928942C>A , CM000681.1:g.41928942C>A GRCh37
NC_000019.8:g.46620782C>A NCBI36
NG_013004.1:g.30249C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000269980.7:c.1035C>A MANE Select ENSP00000269980.2:p.Tyr345Ter
ENST00000269980.6:c.1035C>A ENSP00000269980.2:p.Tyr345Ter
ENST00000457836.6:c.1044C>A ENSP00000416000.2:p.Tyr348Ter
ENST00000540732.3:c.1137C>A ENSP00000443246.1:p.Tyr379Ter
ENST00000542943.5:c.948C>A ENSP00000440345.1:p.Tyr316Ter
ENST00000595085.5:c.922+340C>A ENSP00000471150.2:n.922+340C>A
NM_000709.3:c.1035C>A NP_000700.1:p.Tyr345Ter
NM_001164783.1:c.1032C>A NP_001158255.1:p.Tyr344Ter
NM_000709.4:c.1035C>A MANE Select NP_000700.1:p.Tyr345Ter
NM_001164783.2:c.1032C>A NP_001158255.1:p.Tyr344Ter