Canonical Allele Identifier: CA515376658
Gene: TUBGCP6 HGNC NCBI

Linked Data

MyVariant Identifiers: chr22:g.50658933T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50220504T>C , CM000684.2:g.50220504T>C GRCh38
NC_000022.10:g.50658933T>C , CM000684.1:g.50658933T>C GRCh37
NC_000022.9:g.49001060T>C NCBI36
NG_032160.1:g.29468A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000248846.10:c.3855A>G MANE Select ENSP00000248846.5:p.Glu1285=
ENST00000248846.9:c.3855A>G ENSP00000248846.5:p.Glu1285=
ENST00000439308.6:c.3855A>G ENSP00000397387.2:p.Glu1285=
ENST00000491449.5:n.2162A>G
ENST00000498611.5:n.3618-489A>G
NM_020461.3:c.3855A>G NP_065194.2:p.Glu1285=
XR_938347.1:n.4420A>G
XR_938348.1:n.3050-489A>G
XR_001755343.2:n.4424A>G
XR_001755344.2:n.4424A>G
XR_002958720.1:n.3054-489A>G
XR_938347.2:n.4424A>G
NM_020461.4:c.3855A>G MANE Select NP_065194.3:p.Glu1285=