Canonical Allele Identifier: CA5870932

Gene: TUB

Linked Data

• dbSNP Id: rs557066008
• ExAC: 11:8111170 G / C
• gnomAD v2: 11-8111170-G-C
• gnomAD v3: 11-8089623-G-C
• gnomAD v4: 11-8089623-G-C
• MyVariant Identifiers: chr11:g.8111170G>C (hg19) ; chr11:g.8089623G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.8089623G>C , CM000673.2:g.8089623G>C	GRCh38
NC_000011.9:g.8111170G>C , CM000673.1:g.8111170G>C	GRCh37
NC_000011.8:g.8067746G>C	NCBI36
NG_029912.1:g.55991G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299506.3:c.52G>C MANE Select	ENSP00000299506.3:p.Glu18Gln
ENST00000299506.2:c.52G>C	ENSP00000299506.2:p.Glu18Gln
ENST00000305253.8:c.217G>C	ENSP00000305426.4:p.Glu73Gln
ENST00000534099.5:c.70G>C	ENSP00000434400.1:p.Glu24Gln
NM_003320.4:c.217G>C	NP_003311.2:p.Glu73Gln
NM_177972.2:c.52G>C	NP_813977.1:p.Glu18Gln
XM_005253109.2:c.178G>C	XP_005253166.1:p.Glu60Gln
XM_011520344.1:c.88G>C	XP_011518646.1:p.Glu30Gln
XM_005253109.3:c.178G>C	XP_005253166.1:p.Glu60Gln
XM_011520344.2:c.88G>C	XP_011518646.1:p.Glu30Gln
NM_177972.3:c.52G>C MANE Select	NP_813977.1:p.Glu18Gln
NM_003320.5:c.217G>C	NP_003311.2:p.Glu73Gln