Canonical Allele Identifier: CA363149226

Gene: TUBB

Linked Data

• gnomAD v4: 6-30723979-G-A
• MyVariant Identifiers: chr6:g.30691756G>A (hg19) ; chr6:g.30723979G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.30723979G>A , CM000668.2:g.30723979G>A	GRCh38
NC_000006.11:g.30691756G>A , CM000668.1:g.30691756G>A	GRCh37
NC_000006.10:g.30799735G>A	NCBI36
NG_034142.1:g.8779G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327892.13:c.917G>A MANE Select	ENSP00000339001.7:p.Arg306His
ENST00000680530.1:n.1779G>A
ENST00000681421.1:n.1983G>A
ENST00000681435.1:c.701G>A	ENSP00000506665.1:p.Arg234His
ENST00000327892.12:c.917G>A	ENSP00000339001.7:p.Arg306His
ENST00000330914.7:c.701G>A	ENSP00000365578.2:p.Arg234His
ENST00000396384.1:c.701G>A	ENSP00000379668.1:p.Arg234His
ENST00000396389.5:c.863G>A	ENSP00000379672.1:p.Arg288His
NM_001293212.1:c.977G>A	NP_001280141.1:p.Arg326His
NM_001293213.1:c.370-59G>A	NP_001280142.1:n.370-59G>A
NM_001293214.1:c.785G>A	NP_001280143.1:p.Arg262His
NM_001293215.1:c.701G>A	NP_001280144.1:p.Arg234His
NM_001293216.1:c.701G>A	NP_001280145.1:p.Arg234His
NM_178014.3:c.917G>A	NP_821133.1:p.Arg306His
NR_120608.1:n.624G>A
NM_178014.4:c.917G>A MANE Select	NP_821133.1:p.Arg306His
NM_001293212.2:c.977G>A	NP_001280141.1:p.Arg326His
NM_001293213.2:c.370-59G>A	NP_001280142.1:n.370-59G>A
NM_001293214.2:c.785G>A	NP_001280143.1:p.Arg262His
NM_001293215.2:c.701G>A	NP_001280144.1:p.Arg234His
NM_001293216.2:c.701G>A	NP_001280145.1:p.Arg234His
NR_120608.2:n.473G>A