Canonical Allele Identifier: CA406013793
Gene: BCKDHA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41423022C>A , CM000681.2:g.41423022C>A GRCh38
NC_000019.9:g.41928927C>A , CM000681.1:g.41928927C>A GRCh37
NC_000019.8:g.46620767C>A NCBI36
NG_013004.1:g.30234C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000269980.7:c.1020C>A MANE Select ENSP00000269980.2:p.Asp340Glu
ENST00000269980.6:c.1020C>A ENSP00000269980.2:p.Asp340Glu
ENST00000457836.6:c.1029C>A ENSP00000416000.2:p.Asp343Glu
ENST00000540732.3:c.1122C>A ENSP00000443246.1:p.Asp374Glu
ENST00000542943.5:c.933C>A ENSP00000440345.1:p.Asp311Glu
ENST00000595085.5:c.922+325C>A ENSP00000471150.2:n.922+325C>A
NM_000709.3:c.1020C>A NP_000700.1:p.Asp340Glu
NM_001164783.1:c.1017C>A NP_001158255.1:p.Asp339Glu
NM_000709.4:c.1020C>A MANE Select NP_000700.1:p.Asp340Glu
NM_001164783.2:c.1017C>A NP_001158255.1:p.Asp339Glu