Canonical Allele Identifier: CA217415322

Gene: TUB

Linked Data

• dbSNP Id: rs765317772
• gnomAD v2: 11-8111379-G-A
• gnomAD v3: 11-8089832-G-A
• gnomAD v4: 11-8089832-G-A
• MyVariant Identifiers: chr11:g.8111379G>A (hg19) ; chr11:g.8089832G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.8089832G>A , CM000673.2:g.8089832G>A	GRCh38
NC_000011.9:g.8111379G>A , CM000673.1:g.8111379G>A	GRCh37
NC_000011.8:g.8067955G>A	NCBI36
NG_029912.1:g.56200G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000299506.3:c.90+171G>A MANE Select	ENSP00000299506.3:n.90+171G>A
ENST00000299506.2:c.90+171G>A	ENSP00000299506.2:n.90+171G>A
ENST00000305253.8:c.255+171G>A	ENSP00000305426.4:n.255+171G>A
ENST00000534099.5:c.108+171G>A	ENSP00000434400.1:n.108+171G>A
NM_003320.4:c.255+171G>A	NP_003311.2:n.255+171G>A
NM_177972.2:c.90+171G>A	NP_813977.1:n.90+171G>A
XM_005253109.2:c.216+171G>A	XP_005253166.1:n.216+171G>A
XM_011520344.1:c.126+171G>A	XP_011518646.1:n.126+171G>A
XM_005253109.3:c.216+171G>A	XP_005253166.1:n.216+171G>A
XM_011520344.2:c.126+171G>A	XP_011518646.1:n.126+171G>A
NM_177972.3:c.90+171G>A MANE Select	NP_813977.1:n.90+171G>A
NM_003320.5:c.255+171G>A	NP_003311.2:n.255+171G>A