Canonical Allele Identifier: CA2838313778
Gene: TBCB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.36115941T>A , CM000681.2:g.36115941T>A GRCh38
NC_000019.9:g.36606843T>A , CM000681.1:g.36606843T>A GRCh37
NC_000019.8:g.41298683T>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000221855.8:c.115-100T>A MANE Select ENSP00000221855.3:n.115-100T>A
ENST00000651435.1:c.115-100T>A ENSP00000498740.1:n.115-100T>A
ENST00000221855.7:c.115-100T>A ENSP00000221855.3:n.115-100T>A
ENST00000392178.8:n.192-100T>A
ENST00000481742.1:n.193-100T>A
ENST00000585746.1:c.-40+13T>A ENSP00000467487.1:n.-40+13T>A
ENST00000588385.5:c.-139T>A ENSP00000467172.1:n.-139T>A
ENST00000589308.1:n.101+13T>A
ENST00000589624.5:c.-139T>A ENSP00000467825.1:n.-139T>A
ENST00000589996.5:c.115-100T>A ENSP00000465447.1:n.115-100T>A
ENST00000591296.1:c.64-100T>A ENSP00000465979.2:n.64-100T>A
ENST00000629269.2:c.-39-100T>A ENSP00000485894.1:n.-39-100T>A
NM_001281.2:c.115-100T>A NP_001272.2:n.115-100T>A
NM_001300971.1:c.-40+13T>A NP_001287900.1:n.-40+13T>A
NM_001300971.2:c.-40+13T>A NP_001287900.1:n.-40+13T>A
NR_155756.1:n.690-100T>A
NM_001281.3:c.115-100T>A MANE Select NP_001272.2:n.115-100T>A
NM_001300971.3:c.-40+13T>A NP_001287900.1:n.-40+13T>A
NR_155756.2:n.709-100T>A