Canonical Allele Identifier: CA1640908562
Gene: BCKDHB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.80106622T= , CM000668.2:g.80106622T= GRCh38
NC_000006.11:g.80816339T= , CM000668.1:g.80816339T= GRCh37
NC_000006.10:g.80873058T= NCBI36
NG_009775.1:g.4996T=
NG_009775.2:g.4996T=

Transcript Alleles

HGVS Amino-acid Change
NM_000056.4:c.-72T= NP_000047.1:n.-72T=
NM_001318975.1:c.-76T= NP_001305904.1:n.-76T=
NM_183050.3:c.-72T= NP_898871.1:n.-72T=
NR_134945.1:n.13T=