Canonical Allele Identifier: CA406013820
Gene: BCKDHA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41423035T>A , CM000681.2:g.41423035T>A GRCh38
NC_000019.9:g.41928940T>A , CM000681.1:g.41928940T>A GRCh37
NC_000019.8:g.46620780T>A NCBI36
NG_013004.1:g.30247T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000269980.7:c.1033T>A MANE Select ENSP00000269980.2:p.Tyr345Asn
ENST00000269980.6:c.1033T>A ENSP00000269980.2:p.Tyr345Asn
ENST00000457836.6:c.1042T>A ENSP00000416000.2:p.Tyr348Asn
ENST00000540732.3:c.1135T>A ENSP00000443246.1:p.Tyr379Asn
ENST00000542943.5:c.946T>A ENSP00000440345.1:p.Tyr316Asn
ENST00000595085.5:c.922+338T>A ENSP00000471150.2:n.922+338T>A
NM_000709.3:c.1033T>A NP_000700.1:p.Tyr345Asn
NM_001164783.1:c.1030T>A NP_001158255.1:p.Tyr344Asn
NM_000709.4:c.1033T>A MANE Select NP_000700.1:p.Tyr345Asn
NM_001164783.2:c.1030T>A NP_001158255.1:p.Tyr344Asn