Canonical Allele Identifier: CA217414866

Gene: TUB

Linked Data

• dbSNP Id: rs1002971529
• gnomAD v2: 11-8110964-C-T
• gnomAD v3: 11-8089417-C-T
• gnomAD v4: 11-8089417-C-T
• MyVariant Identifiers: chr11:g.8110964C>T (hg19) ; chr11:g.8089417C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.8089417C>T , CM000673.2:g.8089417C>T	GRCh38
NC_000011.9:g.8110964C>T , CM000673.1:g.8110964C>T	GRCh37
NC_000011.8:g.8067540C>T	NCBI36
NG_029912.1:g.55785C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299506.3:c.39-193C>T MANE Select	ENSP00000299506.3:n.39-193C>T
ENST00000299506.2:c.39-193C>T	ENSP00000299506.2:n.39-193C>T
ENST00000305253.8:c.204-193C>T	ENSP00000305426.4:n.204-193C>T
ENST00000534099.5:c.57-193C>T	ENSP00000434400.1:n.57-193C>T
NM_003320.4:c.204-193C>T	NP_003311.2:n.204-193C>T
NM_177972.2:c.39-193C>T	NP_813977.1:n.39-193C>T
XM_005253109.2:c.165-193C>T	XP_005253166.1:n.165-193C>T
XM_011520344.1:c.75-193C>T	XP_011518646.1:n.75-193C>T
XM_005253109.3:c.165-193C>T	XP_005253166.1:n.165-193C>T
XM_011520344.2:c.75-193C>T	XP_011518646.1:n.75-193C>T
NM_177972.3:c.39-193C>T MANE Select	NP_813977.1:n.39-193C>T
NM_003320.5:c.204-193C>T	NP_003311.2:n.204-193C>T