Canonical Allele Identifier: CA3703565

Gene: TUBB

Linked Data

• dbSNP Id: rs778934150
• ExAC: 6:30691820 T / C
• gnomAD v2: 6-30691820-T-C
• gnomAD v4: 6-30724043-T-C
• MyVariant Identifiers: chr6:g.30691820T>C (hg19) ; chr6:g.30724043T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.30724043T>C , CM000668.2:g.30724043T>C	GRCh38
NC_000006.11:g.30691820T>C , CM000668.1:g.30691820T>C	GRCh37
NC_000006.10:g.30799799T>C	NCBI36
NG_034142.1:g.8843T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327892.13:c.981T>C MANE Select	ENSP00000339001.7:p.Asp327=
ENST00000680530.1:n.1843T>C
ENST00000681421.1:n.2047T>C
ENST00000681435.1:c.765T>C	ENSP00000506665.1:p.Asp255=
ENST00000327892.12:c.981T>C	ENSP00000339001.7:p.Asp327=
ENST00000330914.7:c.765T>C	ENSP00000365578.2:p.Asp255=
ENST00000396384.1:c.765T>C	ENSP00000379668.1:p.Asp255=
ENST00000396389.5:c.927T>C	ENSP00000379672.1:p.Asp309=
NM_001293212.1:c.1041T>C	NP_001280141.1:p.Asp347=
NM_001293213.1:c.375T>C	NP_001280142.1:p.Asp125=
NM_001293214.1:c.849T>C	NP_001280143.1:p.Asp283=
NM_001293215.1:c.765T>C	NP_001280144.1:p.Asp255=
NM_001293216.1:c.765T>C	NP_001280145.1:p.Asp255=
NM_178014.3:c.981T>C	NP_821133.1:p.Asp327=
NR_120608.1:n.688T>C
NM_178014.4:c.981T>C MANE Select	NP_821133.1:p.Asp327=
NM_001293212.2:c.1041T>C	NP_001280141.1:p.Asp347=
NM_001293213.2:c.375T>C	NP_001280142.1:p.Asp125=
NM_001293214.2:c.849T>C	NP_001280143.1:p.Asp283=
NM_001293215.2:c.765T>C	NP_001280144.1:p.Asp255=
NM_001293216.2:c.765T>C	NP_001280145.1:p.Asp255=
NR_120608.2:n.537T>C