Canonical Allele Identifier: CA363151681
Gene: TUBB HGNC NCBI

Linked Data

gnomAD v4: 6-30724298-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.30724298G>C , CM000668.2:g.30724298G>C GRCh38
NC_000006.11:g.30692075G>C , CM000668.1:g.30692075G>C GRCh37
NC_000006.10:g.30800054G>C NCBI36
NG_034142.1:g.9098G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000327892.13:c.1236G>C MANE Select ENSP00000339001.7:p.Glu412Asp
ENST00000680530.1:n.2098G>C
ENST00000681421.1:n.2302G>C
ENST00000681435.1:c.1020G>C ENSP00000506665.1:p.Glu340Asp
ENST00000327892.12:c.1236G>C ENSP00000339001.7:p.Glu412Asp
ENST00000330914.7:c.1020G>C ENSP00000365578.2:p.Glu340Asp
ENST00000396384.1:c.1020G>C ENSP00000379668.1:p.Glu340Asp
ENST00000396389.5:c.1182G>C ENSP00000379672.1:p.Glu394Asp
NM_001293212.1:c.1296G>C NP_001280141.1:p.Glu432Asp
NM_001293213.1:c.630G>C NP_001280142.1:p.Glu210Asp
NM_001293214.1:c.1104G>C NP_001280143.1:p.Glu368Asp
NM_001293215.1:c.1020G>C NP_001280144.1:p.Glu340Asp
NM_001293216.1:c.1020G>C NP_001280145.1:p.Glu340Asp
NM_178014.3:c.1236G>C NP_821133.1:p.Glu412Asp
NR_120608.1:n.943G>C
NM_178014.4:c.1236G>C MANE Select NP_821133.1:p.Glu412Asp
NM_001293212.2:c.1296G>C NP_001280141.1:p.Glu432Asp
NM_001293213.2:c.630G>C NP_001280142.1:p.Glu210Asp
NM_001293214.2:c.1104G>C NP_001280143.1:p.Glu368Asp
NM_001293215.2:c.1020G>C NP_001280144.1:p.Glu340Asp
NM_001293216.2:c.1020G>C NP_001280145.1:p.Glu340Asp
NR_120608.2:n.792G>C