Canonical Allele Identifier: CA9461099
Gene: BCKDHA HGNC NCBI

Linked Data

ClinVar Variation Id: 510735
dbSNP Id: rs377496852

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41411013C>T , CM000681.2:g.41411013C>T GRCh38
NC_000019.9:g.41916918C>T , CM000681.1:g.41916918C>T GRCh37
NC_000019.8:g.46608758C>T NCBI36
NG_013004.1:g.18225C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000269980.7:c.375+4C>T MANE Select ENSP00000269980.2:n.375+4C>T
ENST00000269980.6:c.375+4C>T ENSP00000269980.2:n.375+4C>T
ENST00000457836.6:c.309+4C>T ENSP00000416000.2:n.309+4C>T
ENST00000538423.5:n.501+4C>T
ENST00000540732.3:c.477+4C>T ENSP00000443246.1:n.477+4C>T
ENST00000541315.1:c.182+4C>T
ENST00000542943.5:c.288+197C>T ENSP00000440345.1:n.288+197C>T
ENST00000595085.5:c.375+4C>T ENSP00000471150.2:n.375+4C>T
NM_000709.3:c.375+4C>T NP_000700.1:n.375+4C>T
NM_001164783.1:c.375+4C>T NP_001158255.1:n.375+4C>T
NM_000709.4:c.375+4C>T MANE Select NP_000700.1:n.375+4C>T
NM_001164783.2:c.375+4C>T NP_001158255.1:n.375+4C>T