Canonical Allele Identifier: CA515376281
Gene: TUBGCP6 HGNC NCBI

Linked Data

MyVariant Identifiers: chr22:g.50659632G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50221203G>T , CM000684.2:g.50221203G>T GRCh38
NC_000022.10:g.50659632G>T , CM000684.1:g.50659632G>T GRCh37
NC_000022.9:g.49001759G>T NCBI36
NG_032160.1:g.28769C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000248846.10:c.3156C>A MANE Select ENSP00000248846.5:p.Thr1052=
ENST00000248846.9:c.3156C>A ENSP00000248846.5:p.Thr1052=
ENST00000439308.6:c.3156C>A ENSP00000397387.2:p.Thr1052=
ENST00000491449.5:n.1463C>A
ENST00000498611.5:n.3617+72C>A
NM_020461.3:c.3156C>A NP_065194.2:p.Thr1052=
XR_938347.1:n.3721C>A
XR_938348.1:n.3049+825C>A
XR_001755343.2:n.3725C>A
XR_001755344.2:n.3725C>A
XR_002958720.1:n.3053+825C>A
XR_938347.2:n.3725C>A
NM_020461.4:c.3156C>A MANE Select NP_065194.3:p.Thr1052=