Canonical Allele Identifier: CA209090
Gene: TUBGCP6 HGNC NCBI

Linked Data

ClinVar Variation Id: 212518
dbSNP Id: rs148626062

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50244371C>T , CM000684.2:g.50244371C>T GRCh38
NC_000022.10:g.50682800C>T , CM000684.1:g.50682800C>T GRCh37
NC_000022.9:g.49024927C>T NCBI36
NG_029758.1:g.12035G>A
NG_032160.1:g.5601G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000248846.10:c.89G>A MANE Select ENSP00000248846.5:p.Arg30Gln
ENST00000248846.9:c.89G>A ENSP00000248846.5:p.Arg30Gln
ENST00000439308.6:c.89G>A ENSP00000397387.2:p.Arg30Gln
ENST00000498611.5:n.622G>A
NM_020461.3:c.89G>A NP_065194.2:p.Arg30Gln
XR_938347.1:n.654G>A
XR_938348.1:n.654G>A
XR_001755343.2:n.658G>A
XR_001755344.2:n.658G>A
XR_002958720.1:n.658G>A
XR_938347.2:n.658G>A
NM_020461.4:c.89G>A MANE Select NP_065194.3:p.Arg30Gln