Canonical Allele Identifier: CA9461344
Gene: BCKDHA HGNC NCBI

Linked Data

dbSNP Id: rs753122878

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41422960G>A , CM000681.2:g.41422960G>A GRCh38
NC_000019.9:g.41928865G>A , CM000681.1:g.41928865G>A GRCh37
NC_000019.8:g.46620705G>A NCBI36
NG_013004.1:g.30172G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000269980.7:c.996-38G>A MANE Select ENSP00000269980.2:n.996-38G>A
ENST00000269980.6:c.996-38G>A ENSP00000269980.2:n.996-38G>A
ENST00000457836.6:c.967G>A ENSP00000416000.2:p.Glu323Lys
ENST00000540732.3:c.1098-38G>A ENSP00000443246.1:n.1098-38G>A
ENST00000542943.5:c.909-38G>A ENSP00000440345.1:n.909-38G>A
ENST00000595085.5:c.922+263G>A ENSP00000471150.2:n.922+263G>A
NM_000709.3:c.996-38G>A NP_000700.1:n.996-38G>A
NM_001164783.1:c.993-38G>A NP_001158255.1:n.993-38G>A
NM_000709.4:c.996-38G>A MANE Select NP_000700.1:n.996-38G>A
NM_001164783.2:c.993-38G>A NP_001158255.1:n.993-38G>A