Canonical Allele Identifier: CA412103081
Gene: TUBGCP6 HGNC NCBI

Linked Data

ClinVar Variation Id: 1524323
ClinVar RCV Id: RCV002031630
dbSNP Id: rs1428508613
gnomAD v2: 22-50662813-C-T
gnomAD v3: 22-50224384-C-T
gnomAD v4: 22-50224384-C-T
MyVariant Identifiers: chr22:g.50662813C>T (hg19) chr22:g.50224384C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50224384C>T , CM000684.2:g.50224384C>T GRCh38
NC_000022.10:g.50662813C>T , CM000684.1:g.50662813C>T GRCh37
NC_000022.9:g.49004940C>T NCBI36
NG_032160.1:g.25588G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000248846.10:c.2102G>A MANE Select ENSP00000248846.5:p.Arg701Gln
ENST00000248846.9:c.2102G>A ENSP00000248846.5:p.Arg701Gln
ENST00000439308.6:c.2102G>A ENSP00000397387.2:p.Arg701Gln
ENST00000473946.1:n.411G>A
ENST00000489511.5:n.119G>A
ENST00000491449.5:n.409G>A
ENST00000498611.5:n.2635G>A
NM_020461.3:c.2102G>A NP_065194.2:p.Arg701Gln
XR_938347.1:n.2667G>A
XR_938348.1:n.2667G>A
XR_001755343.2:n.2671G>A
XR_001755344.2:n.2671G>A
XR_002958720.1:n.2671G>A
XR_938347.2:n.2671G>A
NM_020461.4:c.2102G>A MANE Select NP_065194.3:p.Arg701Gln
Search 100 bp 5'
Search 100 bp 3'