Canonical Allele Identifier: CA2336459343
Gene: BCKDHA HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41422919C= , CM000681.2:g.41422919C= GRCh38
NC_000019.9:g.41928824C= , CM000681.1:g.41928824C= GRCh37
NC_000019.8:g.46620664C= NCBI36
NG_013004.1:g.30131C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000269980.7:c.996-79C= MANE Select ENSP00000269980.2:n.996-79C=
ENST00000269980.6:c.996-79C= ENSP00000269980.2:n.996-79C=
ENST00000457836.6:c.930-4C= ENSP00000416000.2:n.930-4C=
ENST00000540732.3:c.1098-79C= ENSP00000443246.1:n.1098-79C=
ENST00000542943.5:c.909-79C= ENSP00000440345.1:n.909-79C=
ENST00000595085.5:c.922+222C= ENSP00000471150.2:n.922+222C=
NM_000709.3:c.996-79C= NP_000700.1:n.996-79C=
NM_001164783.1:c.993-79C= NP_001158255.1:n.993-79C=
NM_000709.4:c.996-79C= MANE Select NP_000700.1:n.996-79C=
NM_001164783.2:c.993-79C= NP_001158255.1:n.993-79C=
Search 100 bp 5'
Search 100 bp 3'