Canonical Allele Identifier: CA515376607
Gene: TUBGCP6 HGNC NCBI

Linked Data

MyVariant Identifiers: chr22:g.50659722T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50221293T>C , CM000684.2:g.50221293T>C GRCh38
NC_000022.10:g.50659722T>C , CM000684.1:g.50659722T>C GRCh37
NC_000022.9:g.49001849T>C NCBI36
NG_032160.1:g.28679A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000248846.10:c.3066A>G MANE Select ENSP00000248846.5:p.Thr1022=
ENST00000248846.9:c.3066A>G ENSP00000248846.5:p.Thr1022=
ENST00000439308.6:c.3066A>G ENSP00000397387.2:p.Thr1022=
ENST00000491449.5:n.1373A>G
ENST00000498611.5:n.3599A>G
NM_020461.3:c.3066A>G NP_065194.2:p.Thr1022=
XR_938347.1:n.3631A>G
XR_938348.1:n.3049+735A>G
XR_001755343.2:n.3635A>G
XR_001755344.2:n.3635A>G
XR_002958720.1:n.3053+735A>G
XR_938347.2:n.3635A>G
NM_020461.4:c.3066A>G MANE Select NP_065194.3:p.Thr1022=