Canonical Allele Identifier: CA13557900
Gene: TUB HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.8089993T>C
GRCh37 chr11:g.8111540T>C
gnomAD v2:
11:8111540 T / C
gnomAD v3:
11:8089993 T / C
gnomAD v4:
chr11-8089993-T-C
Joint Max Group AF 0.68373977 (NFE)
Genomes Max Group AF 0.68139183 (NFE)
Exomes Max Group AF 0.68359502 (NFE)
dbSNP:
2272382
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.8089993T>C , CM000673.2:g.8089993T>C GRCh38
NC_000011.9:g.8111540T>C , CM000673.1:g.8111540T>C GRCh37
NC_000011.8:g.8068116T>C NCBI36
NG_029912.1:g.56361T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000299506.3:c.91-76T>C MANE Select ENSP00000299506.3:n.91-76T>C
ENST00000299506.2:c.91-76T>C ENSP00000299506.2:n.91-76T>C
ENST00000305253.8:c.256-76T>C ENSP00000305426.4:n.256-76T>C
ENST00000534099.5:c.109-76T>C ENSP00000434400.1:n.109-76T>C
NM_003320.4:c.256-76T>C NP_003311.2:n.256-76T>C
NM_177972.2:c.91-76T>C NP_813977.1:n.91-76T>C
XM_005253109.2:c.217-76T>C XP_005253166.1:n.217-76T>C
XM_011520344.1:c.127-76T>C XP_011518646.1:n.127-76T>C
XM_005253109.3:c.217-76T>C XP_005253166.1:n.217-76T>C
XM_011520344.2:c.127-76T>C XP_011518646.1:n.127-76T>C
NM_177972.3:c.91-76T>C MANE Select NP_813977.1:n.91-76T>C
NM_003320.5:c.256-76T>C NP_003311.2:n.256-76T>C
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