Canonical Allele Identifier: CA10308058
Gene: TUBGCP6 HGNC NCBI

Linked Data

ClinVar Variation Id: 1076117
ClinVar RCV Id: RCV001389901
dbSNP Id: rs755344399
ExAC: 22:50659706 G / A
gnomAD v2: 22-50659706-G-A
MyVariant Identifiers: chr22:g.50659706G>A (hg19) chr22:g.50221277G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50221277G>A , CM000684.2:g.50221277G>A GRCh38
NC_000022.10:g.50659706G>A , CM000684.1:g.50659706G>A GRCh37
NC_000022.9:g.49001833G>A NCBI36
NG_032160.1:g.28695C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000248846.10:c.3082C>T MANE Select ENSP00000248846.5:p.Gln1028Ter
ENST00000248846.9:c.3082C>T ENSP00000248846.5:p.Gln1028Ter
ENST00000439308.6:c.3082C>T ENSP00000397387.2:p.Gln1028Ter
ENST00000491449.5:n.1389C>T
ENST00000498611.5:n.3615C>T
NM_020461.3:c.3082C>T NP_065194.2:p.Gln1028Ter
XR_938347.1:n.3647C>T
XR_938348.1:n.3049+751C>T
XR_001755343.2:n.3651C>T
XR_001755344.2:n.3651C>T
XR_002958720.1:n.3053+751C>T
XR_938347.2:n.3651C>T
NM_020461.4:c.3082C>T MANE Select NP_065194.3:p.Gln1028Ter
Search 100 bp 5'
Search 100 bp 3'