Canonical Allele Identifier: CA449776894
Gene: TUBB HGNC NCBI

Linked Data

dbSNP Id: rs1482574763
gnomAD v2: 6-30691796-T-A
gnomAD v4: 6-30724019-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.30724019T>A , CM000668.2:g.30724019T>A GRCh38
NC_000006.11:g.30691796T>A , CM000668.1:g.30691796T>A GRCh37
NC_000006.10:g.30799775T>A NCBI36
NG_034142.1:g.8819T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000327892.13:c.957T>A MANE Select ENSP00000339001.7:p.Gly319=
ENST00000680530.1:n.1819T>A
ENST00000681421.1:n.2023T>A
ENST00000681435.1:c.741T>A ENSP00000506665.1:p.Gly247=
ENST00000327892.12:c.957T>A ENSP00000339001.7:p.Gly319=
ENST00000330914.7:c.741T>A ENSP00000365578.2:p.Gly247=
ENST00000396384.1:c.741T>A ENSP00000379668.1:p.Gly247=
ENST00000396389.5:c.903T>A ENSP00000379672.1:p.Gly301=
NM_001293212.1:c.1017T>A NP_001280141.1:p.Gly339=
NM_001293213.1:c.370-19T>A NP_001280142.1:n.370-19T>A
NM_001293214.1:c.825T>A NP_001280143.1:p.Gly275=
NM_001293215.1:c.741T>A NP_001280144.1:p.Gly247=
NM_001293216.1:c.741T>A NP_001280145.1:p.Gly247=
NM_178014.3:c.957T>A NP_821133.1:p.Gly319=
NR_120608.1:n.664T>A
NM_178014.4:c.957T>A MANE Select NP_821133.1:p.Gly319=
NM_001293212.2:c.1017T>A NP_001280141.1:p.Gly339=
NM_001293213.2:c.370-19T>A NP_001280142.1:n.370-19T>A
NM_001293214.2:c.825T>A NP_001280143.1:p.Gly275=
NM_001293215.2:c.741T>A NP_001280144.1:p.Gly247=
NM_001293216.2:c.741T>A NP_001280145.1:p.Gly247=
NR_120608.2:n.513T>A