Canonical Allele Identifier: CA412180522
Gene: TUBGCP6 HGNC NCBI

Linked Data

ClinVar Variation Id: 2546249
ClinVar RCV Id: RCV003267574

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50220638T>C , CM000684.2:g.50220638T>C GRCh38
NC_000022.10:g.50659067T>C , CM000684.1:g.50659067T>C GRCh37
NC_000022.9:g.49001194T>C NCBI36
NG_032160.1:g.29334A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000248846.10:c.3721A>G MANE Select ENSP00000248846.5:p.Thr1241Ala
ENST00000248846.9:c.3721A>G ENSP00000248846.5:p.Thr1241Ala
ENST00000439308.6:c.3721A>G ENSP00000397387.2:p.Thr1241Ala
ENST00000491449.5:n.2028A>G
ENST00000498611.5:n.3618-623A>G
NM_020461.3:c.3721A>G NP_065194.2:p.Thr1241Ala
XR_938347.1:n.4286A>G
XR_938348.1:n.3050-623A>G
XR_001755343.2:n.4290A>G
XR_001755344.2:n.4290A>G
XR_002958720.1:n.3054-623A>G
XR_938347.2:n.4290A>G
NM_020461.4:c.3721A>G MANE Select NP_065194.3:p.Thr1241Ala