Canonical Allele Identifier: CA412102871
Gene: TUBGCP6 HGNC NCBI

Linked Data

ClinVar Variation Id: 1377040
ClinVar RCV Id: RCV001888293
dbSNP Id: rs2147185031

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50224345A>G , CM000684.2:g.50224345A>G GRCh38
NC_000022.10:g.50662774A>G , CM000684.1:g.50662774A>G GRCh37
NC_000022.9:g.49004901A>G NCBI36
NG_032160.1:g.25627T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000248846.10:c.2141T>C MANE Select ENSP00000248846.5:p.Val714Ala
ENST00000248846.9:c.2141T>C ENSP00000248846.5:p.Val714Ala
ENST00000439308.6:c.2141T>C ENSP00000397387.2:p.Val714Ala
ENST00000473946.1:n.450T>C
ENST00000489511.5:n.158T>C
ENST00000491449.5:n.448T>C
ENST00000498611.5:n.2674T>C
NM_020461.3:c.2141T>C NP_065194.2:p.Val714Ala
XR_938347.1:n.2706T>C
XR_938348.1:n.2706T>C
XR_001755343.2:n.2710T>C
XR_001755344.2:n.2710T>C
XR_002958720.1:n.2710T>C
XR_938347.2:n.2710T>C
NM_020461.4:c.2141T>C MANE Select NP_065194.3:p.Val714Ala