Canonical Allele Identifier: CA9461354
Gene: BCKDHA HGNC NCBI

Linked Data

ClinVar Variation Id: 1121386
ClinVar RCV Id: RCV001451656
dbSNP Id: rs748005370

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41422988C>T , CM000681.2:g.41422988C>T GRCh38
NC_000019.9:g.41928893C>T , CM000681.1:g.41928893C>T GRCh37
NC_000019.8:g.46620733C>T NCBI36
NG_013004.1:g.30200C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000269980.7:c.996-10C>T MANE Select ENSP00000269980.2:n.996-10C>T
ENST00000269980.6:c.996-10C>T ENSP00000269980.2:n.996-10C>T
ENST00000457836.6:c.995C>T ENSP00000416000.2:p.Pro332Leu
ENST00000540732.3:c.1098-10C>T ENSP00000443246.1:n.1098-10C>T
ENST00000542943.5:c.909-10C>T ENSP00000440345.1:n.909-10C>T
ENST00000595085.5:c.922+291C>T ENSP00000471150.2:n.922+291C>T
NM_000709.3:c.996-10C>T NP_000700.1:n.996-10C>T
NM_001164783.1:c.993-10C>T NP_001158255.1:n.993-10C>T
NM_000709.4:c.996-10C>T MANE Select NP_000700.1:n.996-10C>T
NM_001164783.2:c.993-10C>T NP_001158255.1:n.993-10C>T