Canonical Allele Identifier: CA412183761
Gene: TUBGCP6 HGNC NCBI

Linked Data

ClinVar Variation Id: 437164
ClinVar RCV Id: RCV000499778

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50221071A>T , CM000684.2:g.50221071A>T GRCh38
NC_000022.10:g.50659500A>T , CM000684.1:g.50659500A>T GRCh37
NC_000022.9:g.49001627A>T NCBI36
NG_032160.1:g.28901T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000248846.10:c.3288T>A MANE Select ENSP00000248846.5:p.Asp1096Glu
ENST00000248846.9:c.3288T>A ENSP00000248846.5:p.Asp1096Glu
ENST00000439308.6:c.3288T>A ENSP00000397387.2:p.Asp1096Glu
ENST00000491449.5:n.1595T>A
ENST00000498611.5:n.3617+204T>A
NM_020461.3:c.3288T>A NP_065194.2:p.Asp1096Glu
XR_938347.1:n.3853T>A
XR_938348.1:n.3049+957T>A
XR_001755343.2:n.3857T>A
XR_001755344.2:n.3857T>A
XR_002958720.1:n.3053+957T>A
XR_938347.2:n.3857T>A
NM_020461.4:c.3288T>A MANE Select NP_065194.3:p.Asp1096Glu