Canonical Allele Identifier: CA379563224

Gene: TUB

Linked Data

• gnomAD v4: 11-8090230-A-C
• MyVariant Identifiers: chr11:g.8111777A>C (hg19) ; chr11:g.8090230A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.8090230A>C , CM000673.2:g.8090230A>C	GRCh38
NC_000011.9:g.8111777A>C , CM000673.1:g.8111777A>C	GRCh37
NC_000011.8:g.8068353A>C	NCBI36
NG_029912.1:g.56598A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299506.3:c.252A>C MANE Select	ENSP00000299506.3:p.Gln84His
ENST00000299506.2:c.252A>C	ENSP00000299506.2:p.Gln84His
ENST00000305253.8:c.417A>C	ENSP00000305426.4:p.Gln139His
ENST00000534099.5:c.270A>C	ENSP00000434400.1:p.Gln90His
NM_003320.4:c.417A>C	NP_003311.2:p.Gln139His
NM_177972.2:c.252A>C	NP_813977.1:p.Gln84His
XM_005253109.2:c.378A>C	XP_005253166.1:p.Gln126His
XM_011520344.1:c.288A>C	XP_011518646.1:p.Gln96His
XM_005253109.3:c.378A>C	XP_005253166.1:p.Gln126His
XM_011520344.2:c.288A>C	XP_011518646.1:p.Gln96His
NM_177972.3:c.252A>C MANE Select	NP_813977.1:p.Gln84His
NM_003320.5:c.417A>C	NP_003311.2:p.Gln139His