Canonical Allele Identifier: CA3703559

Gene: TUBB

Linked Data

• dbSNP Id: rs373645118
• ExAC: 6:30691742 T / A
• gnomAD v2: 6-30691742-T-A
• MyVariant Identifiers: chr6:g.30691742T>A (hg19) ; chr6:g.30723965T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.30723965T>A , CM000668.2:g.30723965T>A	GRCh38
NC_000006.11:g.30691742T>A , CM000668.1:g.30691742T>A	GRCh37
NC_000006.10:g.30799721T>A	NCBI36
NG_034142.1:g.8765T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327892.13:c.903T>A MANE Select	ENSP00000339001.7:p.Ala301=
ENST00000680530.1:n.1765T>A
ENST00000681421.1:n.1969T>A
ENST00000681435.1:c.687T>A	ENSP00000506665.1:p.Ala229=
ENST00000327892.12:c.903T>A	ENSP00000339001.7:p.Ala301=
ENST00000330914.7:c.687T>A	ENSP00000365578.2:p.Ala229=
ENST00000396384.1:c.687T>A	ENSP00000379668.1:p.Ala229=
ENST00000396389.5:c.849T>A	ENSP00000379672.1:p.Ala283=
NM_001293212.1:c.963T>A	NP_001280141.1:p.Ala321=
NM_001293213.1:c.370-73T>A	NP_001280142.1:n.370-73T>A
NM_001293214.1:c.771T>A	NP_001280143.1:p.Ala257=
NM_001293215.1:c.687T>A	NP_001280144.1:p.Ala229=
NM_001293216.1:c.687T>A	NP_001280145.1:p.Ala229=
NM_178014.3:c.903T>A	NP_821133.1:p.Ala301=
NR_120608.1:n.610T>A
NM_178014.4:c.903T>A MANE Select	NP_821133.1:p.Ala301=
NM_001293212.2:c.963T>A	NP_001280141.1:p.Ala321=
NM_001293213.2:c.370-73T>A	NP_001280142.1:n.370-73T>A
NM_001293214.2:c.771T>A	NP_001280143.1:p.Ala257=
NM_001293215.2:c.687T>A	NP_001280144.1:p.Ala229=
NM_001293216.2:c.687T>A	NP_001280145.1:p.Ala229=
NR_120608.2:n.459T>A