Canonical Allele Identifier: CA412182249
Gene: TUBGCP6 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50220885C>A , CM000684.2:g.50220885C>A GRCh38
NC_000022.10:g.50659314C>A , CM000684.1:g.50659314C>A GRCh37
NC_000022.9:g.49001441C>A NCBI36
NG_032160.1:g.29087G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000248846.10:c.3474G>T MANE Select ENSP00000248846.5:p.Trp1158Cys
ENST00000248846.9:c.3474G>T ENSP00000248846.5:p.Trp1158Cys
ENST00000439308.6:c.3474G>T ENSP00000397387.2:p.Trp1158Cys
ENST00000491449.5:n.1781G>T
ENST00000498611.5:n.3617+390G>T
NM_020461.3:c.3474G>T NP_065194.2:p.Trp1158Cys
XR_938347.1:n.4039G>T
XR_938348.1:n.3050-870G>T
XR_001755343.2:n.4043G>T
XR_001755344.2:n.4043G>T
XR_002958720.1:n.3054-870G>T
XR_938347.2:n.4043G>T
NM_020461.4:c.3474G>T MANE Select NP_065194.3:p.Trp1158Cys