Canonical Allele Identifier: CA5870999

Gene: TUB

Linked Data

• ClinVar Variation Id: 1125400
• ClinVar RCV Id: RCV001457099
• dbSNP Id: rs757759953
• ExAC: 11:8111744 C / T
• gnomAD v2: 11-8111744-C-T
• gnomAD v3: 11-8090197-C-T
• gnomAD v4: 11-8090197-C-T
• MyVariant Identifiers: chr11:g.8111744C>T (hg19) ; chr11:g.8111744_8111749delinsTTACCT (hg19) ; chr11:g.8090197C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.8090197C>T , CM000673.2:g.8090197C>T	GRCh38
NC_000011.9:g.8111744C>T , CM000673.1:g.8111744C>T	GRCh37
NC_000011.8:g.8068320C>T	NCBI36
NG_029912.1:g.56565C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299506.3:c.219C>T MANE Select	ENSP00000299506.3:p.Ser73=
ENST00000299506.2:c.219C>T	ENSP00000299506.2:p.Ser73=
ENST00000305253.8:c.384C>T	ENSP00000305426.4:p.Ser128=
ENST00000534099.5:c.237C>T	ENSP00000434400.1:p.Ser79=
NM_003320.4:c.384C>T	NP_003311.2:p.Ser128=
NM_177972.2:c.219C>T	NP_813977.1:p.Ser73=
XM_005253109.2:c.345C>T	XP_005253166.1:p.Ser115=
XM_011520344.1:c.255C>T	XP_011518646.1:p.Ser85=
XM_005253109.3:c.345C>T	XP_005253166.1:p.Ser115=
XM_011520344.2:c.255C>T	XP_011518646.1:p.Ser85=
NM_177972.3:c.219C>T MANE Select	NP_813977.1:p.Ser73=
NM_003320.5:c.384C>T	NP_003311.2:p.Ser128=