Canonical Allele Identifier: CA221193
Gene: BCKDHA HGNC NCBI

Linked Data

ClinVar Variation Id: 93352
dbSNP Id: rs398123497

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41410825C>T , CM000681.2:g.41410825C>T GRCh38
NC_000019.9:g.41916730C>T , CM000681.1:g.41916730C>T GRCh37
NC_000019.8:g.46608570C>T NCBI36
NG_013004.1:g.18037C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000269980.7:c.288+9C>T MANE Select ENSP00000269980.2:n.288+9C>T
ENST00000269980.6:c.288+9C>T ENSP00000269980.2:n.288+9C>T
ENST00000457836.6:c.222+9C>T ENSP00000416000.2:n.222+9C>T
ENST00000538423.5:n.317C>T
ENST00000540732.3:c.390+9C>T ENSP00000443246.1:n.390+9C>T
ENST00000541315.1:c.95+9C>T
ENST00000542943.5:c.288+9C>T ENSP00000440345.1:n.288+9C>T
ENST00000595085.5:c.288+9C>T ENSP00000471150.2:n.288+9C>T
ENST00000604424.1:n.539C>T
NM_000709.3:c.288+9C>T NP_000700.1:n.288+9C>T
NM_001164783.1:c.288+9C>T NP_001158255.1:n.288+9C>T
NM_000709.4:c.288+9C>T MANE Select NP_000700.1:n.288+9C>T
NM_001164783.2:c.288+9C>T NP_001158255.1:n.288+9C>T