Canonical Allele Identifier: CA363149520

Gene: TUBB

Linked Data

• gnomAD v4: 6-30724021-G-A
• MyVariant Identifiers: chr6:g.30691798G>A (hg19) ; chr6:g.30724021G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.30724021G>A , CM000668.2:g.30724021G>A	GRCh38
NC_000006.11:g.30691798G>A , CM000668.1:g.30691798G>A	GRCh37
NC_000006.10:g.30799777G>A	NCBI36
NG_034142.1:g.8821G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000327892.13:c.959G>A MANE Select	ENSP00000339001.7:p.Arg320Gln
ENST00000680530.1:n.1821G>A
ENST00000681421.1:n.2025G>A
ENST00000681435.1:c.743G>A	ENSP00000506665.1:p.Arg248Gln
ENST00000327892.12:c.959G>A	ENSP00000339001.7:p.Arg320Gln
ENST00000330914.7:c.743G>A	ENSP00000365578.2:p.Arg248Gln
ENST00000396384.1:c.743G>A	ENSP00000379668.1:p.Arg248Gln
ENST00000396389.5:c.905G>A	ENSP00000379672.1:p.Arg302Gln
NM_001293212.1:c.1019G>A	NP_001280141.1:p.Arg340Gln
NM_001293213.1:c.370-17G>A	NP_001280142.1:n.370-17G>A
NM_001293214.1:c.827G>A	NP_001280143.1:p.Arg276Gln
NM_001293215.1:c.743G>A	NP_001280144.1:p.Arg248Gln
NM_001293216.1:c.743G>A	NP_001280145.1:p.Arg248Gln
NM_178014.3:c.959G>A	NP_821133.1:p.Arg320Gln
NR_120608.1:n.666G>A
NM_178014.4:c.959G>A MANE Select	NP_821133.1:p.Arg320Gln
NM_001293212.2:c.1019G>A	NP_001280141.1:p.Arg340Gln
NM_001293213.2:c.370-17G>A	NP_001280142.1:n.370-17G>A
NM_001293214.2:c.827G>A	NP_001280143.1:p.Arg276Gln
NM_001293215.2:c.743G>A	NP_001280144.1:p.Arg248Gln
NM_001293216.2:c.743G>A	NP_001280145.1:p.Arg248Gln
NR_120608.2:n.515G>A