Canonical Allele Identifier: CA325511787
Gene: TUBGCP6 HGNC NCBI

Linked Data

ClinVar Variation Id: 967041
ClinVar RCV Id: RCV001241856
dbSNP Id: rs557274172
gnomAD v2: 22-50658856-T-C
gnomAD v3: 22-50220427-T-C
gnomAD v4: 22-50220427-T-C
MyVariant Identifiers: chr22:g.50658856T>C (hg19) chr22:g.50220427T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50220427T>C , CM000684.2:g.50220427T>C GRCh38
NC_000022.10:g.50658856T>C , CM000684.1:g.50658856T>C GRCh37
NC_000022.9:g.49000983T>C NCBI36
NG_032160.1:g.29545A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000248846.10:c.3932A>G MANE Select ENSP00000248846.5:p.Gln1311Arg
ENST00000248846.9:c.3932A>G ENSP00000248846.5:p.Gln1311Arg
ENST00000439308.6:c.3932A>G ENSP00000397387.2:p.Gln1311Arg
ENST00000491449.5:n.2239A>G
ENST00000498611.5:n.3618-412A>G
NM_020461.3:c.3932A>G NP_065194.2:p.Gln1311Arg
XR_938347.1:n.4497A>G
XR_938348.1:n.3050-412A>G
XR_001755343.2:n.4501A>G
XR_001755344.2:n.4501A>G
XR_002958720.1:n.3054-412A>G
XR_938347.2:n.4501A>G
NM_020461.4:c.3932A>G MANE Select NP_065194.3:p.Gln1311Arg
Search 100 bp 5'
Search 100 bp 3'