Canonical Allele Identifier: CA515243906
Gene: TUBGCP6 HGNC NCBI

Linked Data

MyVariant Identifiers: chr22:g.50678644C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50240215C>T , CM000684.2:g.50240215C>T GRCh38
NC_000022.10:g.50678644C>T , CM000684.1:g.50678644C>T GRCh37
NC_000022.9:g.49020771C>T NCBI36
NG_032160.1:g.9757G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000248846.10:c.894G>A MANE Select ENSP00000248846.5:p.Glu298=
ENST00000248846.9:c.894G>A ENSP00000248846.5:p.Glu298=
ENST00000434349.1:c.136+10G>A
ENST00000439308.6:c.894G>A ENSP00000397387.2:p.Glu298=
ENST00000498611.5:n.1427G>A
NM_020461.3:c.894G>A NP_065194.2:p.Glu298=
XR_938347.1:n.1459G>A
XR_938348.1:n.1459G>A
XR_001755343.2:n.1463G>A
XR_001755344.2:n.1463G>A
XR_002958720.1:n.1463G>A
XR_938347.2:n.1463G>A
NM_020461.4:c.894G>A MANE Select NP_065194.3:p.Glu298=