Canonical Allele Identifier: CA515376933
Gene: TUBGCP6 HGNC NCBI

Linked Data

MyVariant Identifiers: chr22:g.50659002G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50220573G>T , CM000684.2:g.50220573G>T GRCh38
NC_000022.10:g.50659002G>T , CM000684.1:g.50659002G>T GRCh37
NC_000022.9:g.49001129G>T NCBI36
NG_032160.1:g.29399C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000248846.10:c.3786C>A MANE Select ENSP00000248846.5:p.Thr1262=
ENST00000248846.9:c.3786C>A ENSP00000248846.5:p.Thr1262=
ENST00000439308.6:c.3786C>A ENSP00000397387.2:p.Thr1262=
ENST00000491449.5:n.2093C>A
ENST00000498611.5:n.3618-558C>A
NM_020461.3:c.3786C>A NP_065194.2:p.Thr1262=
XR_938347.1:n.4351C>A
XR_938348.1:n.3050-558C>A
XR_001755343.2:n.4355C>A
XR_001755344.2:n.4355C>A
XR_002958720.1:n.3054-558C>A
XR_938347.2:n.4355C>A
NM_020461.4:c.3786C>A MANE Select NP_065194.3:p.Thr1262=