Canonical Allele Identifier: CA10308353
Gene: TUBGCP6 HGNC NCBI

Linked Data

ClinVar Variation Id: 1003873
ClinVar RCV Id: RCV001300489
dbSNP Id: rs371704034
ExAC: 22:50662835 C / G
gnomAD v2: 22-50662835-C-G
gnomAD v3: 22-50224406-C-G
gnomAD v4: 22-50224406-C-G
MyVariant Identifiers: chr22:g.50662835C>G (hg19) chr22:g.50224406C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50224406C>G , CM000684.2:g.50224406C>G GRCh38
NC_000022.10:g.50662835C>G , CM000684.1:g.50662835C>G GRCh37
NC_000022.9:g.49004962C>G NCBI36
NG_032160.1:g.25566G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000248846.10:c.2080G>C MANE Select ENSP00000248846.5:p.Glu694Gln
ENST00000248846.9:c.2080G>C ENSP00000248846.5:p.Glu694Gln
ENST00000439308.6:c.2080G>C ENSP00000397387.2:p.Glu694Gln
ENST00000473946.1:n.389G>C
ENST00000489511.5:n.97G>C
ENST00000491449.5:n.387G>C
ENST00000498611.5:n.2613G>C
NM_020461.3:c.2080G>C NP_065194.2:p.Glu694Gln
XR_938347.1:n.2645G>C
XR_938348.1:n.2645G>C
XR_001755343.2:n.2649G>C
XR_001755344.2:n.2649G>C
XR_002958720.1:n.2649G>C
XR_938347.2:n.2649G>C
NM_020461.4:c.2080G>C MANE Select NP_065194.3:p.Glu694Gln
Search 100 bp 5'
Search 100 bp 3'