Canonical Allele Identifier: CA412182334
Gene: TUBGCP6 HGNC NCBI

Linked Data

dbSNP Id: rs2064509890

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50220904G>A , CM000684.2:g.50220904G>A GRCh38
NC_000022.10:g.50659333G>A , CM000684.1:g.50659333G>A GRCh37
NC_000022.9:g.49001460G>A NCBI36
NG_032160.1:g.29068C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000248846.10:c.3455C>T MANE Select ENSP00000248846.5:p.Ala1152Val
ENST00000248846.9:c.3455C>T ENSP00000248846.5:p.Ala1152Val
ENST00000439308.6:c.3455C>T ENSP00000397387.2:p.Ala1152Val
ENST00000491449.5:n.1762C>T
ENST00000498611.5:n.3617+371C>T
NM_020461.3:c.3455C>T NP_065194.2:p.Ala1152Val
XR_938347.1:n.4020C>T
XR_938348.1:n.3050-889C>T
XR_001755343.2:n.4024C>T
XR_001755344.2:n.4024C>T
XR_002958720.1:n.3054-889C>T
XR_938347.2:n.4024C>T
NM_020461.4:c.3455C>T MANE Select NP_065194.3:p.Ala1152Val