Canonical Allele Identifier: CA3703561
Gene: TUBB HGNC NCBI

Linked Data

dbSNP Id: rs755911366
gnomAD v2: 6-30691766-A-T
gnomAD v3: 6-30723989-A-T
gnomAD v4: 6-30723989-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.30723989A>T , CM000668.2:g.30723989A>T GRCh38
NC_000006.11:g.30691766A>T , CM000668.1:g.30691766A>T GRCh37
NC_000006.10:g.30799745A>T NCBI36
NG_034142.1:g.8789A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000327892.13:c.927A>T MANE Select ENSP00000339001.7:p.Arg309=
ENST00000680530.1:n.1789A>T
ENST00000681421.1:n.1993A>T
ENST00000681435.1:c.711A>T ENSP00000506665.1:p.Arg237=
ENST00000327892.12:c.927A>T ENSP00000339001.7:p.Arg309=
ENST00000330914.7:c.711A>T ENSP00000365578.2:p.Arg237=
ENST00000396384.1:c.711A>T ENSP00000379668.1:p.Arg237=
ENST00000396389.5:c.873A>T ENSP00000379672.1:p.Arg291=
NM_001293212.1:c.987A>T NP_001280141.1:p.Arg329=
NM_001293213.1:c.370-49A>T NP_001280142.1:n.370-49A>T
NM_001293214.1:c.795A>T NP_001280143.1:p.Arg265=
NM_001293215.1:c.711A>T NP_001280144.1:p.Arg237=
NM_001293216.1:c.711A>T NP_001280145.1:p.Arg237=
NM_178014.3:c.927A>T NP_821133.1:p.Arg309=
NR_120608.1:n.634A>T
NM_178014.4:c.927A>T MANE Select NP_821133.1:p.Arg309=
NM_001293212.2:c.987A>T NP_001280141.1:p.Arg329=
NM_001293213.2:c.370-49A>T NP_001280142.1:n.370-49A>T
NM_001293214.2:c.795A>T NP_001280143.1:p.Arg265=
NM_001293215.2:c.711A>T NP_001280144.1:p.Arg237=
NM_001293216.2:c.711A>T NP_001280145.1:p.Arg237=
NR_120608.2:n.483A>T