Canonical Allele Identifier: CA2336460083
Community Standard Title: NM_000709.4(BCKDHA):c.1312T= (p.Tyr438=)
Gene: BCKDHA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41424582T= , CM000681.2:g.41424582T= GRCh38
NC_000019.9:g.41930487T= , CM000681.1:g.41930487T= GRCh37
NC_000019.8:g.46622327T= NCBI36
NG_013004.1:g.31794T=

Transcript Alleles

HGVS Amino-acid Change
NM_000709.4:c.1312T= MANE Select NP_000700.1:p.Tyr438=
ENST00000269980.7:c.1312T= MANE Select ENSP00000269980.2:p.Tyr438=
NM_000709.3:c.1312T= NP_000700.1:p.Tyr438=
NM_001164783.1:c.1309T= NP_001158255.1:p.Tyr437=
NM_001164783.2:c.1309T= NP_001158255.1:p.Tyr437=
ENST00000269980.6:c.1312T= ENSP00000269980.2:p.Tyr438=
ENST00000457836.6:c.1321T= ENSP00000416000.2:p.Tyr441=
ENST00000540732.3:c.1414T= ENSP00000443246.1:p.Tyr472=
ENST00000544905.1:c.142T=
ENST00000595085.5:c.922+1885T= ENSP00000471150.2:n.922+1885T=