Canonical Allele Identifier: CA515376823
Gene: TUBGCP6 HGNC NCBI

Linked Data

MyVariant Identifiers: chr22:g.50662793T>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50224364T>G , CM000684.2:g.50224364T>G GRCh38
NC_000022.10:g.50662793T>G , CM000684.1:g.50662793T>G GRCh37
NC_000022.9:g.49004920T>G NCBI36
NG_032160.1:g.25608A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000248846.10:c.2122A>C MANE Select ENSP00000248846.5:p.Arg708=
ENST00000248846.9:c.2122A>C ENSP00000248846.5:p.Arg708=
ENST00000439308.6:c.2122A>C ENSP00000397387.2:p.Arg708=
ENST00000473946.1:n.431A>C
ENST00000489511.5:n.139A>C
ENST00000491449.5:n.429A>C
ENST00000498611.5:n.2655A>C
NM_020461.3:c.2122A>C NP_065194.2:p.Arg708=
XR_938347.1:n.2687A>C
XR_938348.1:n.2687A>C
XR_001755343.2:n.2691A>C
XR_001755344.2:n.2691A>C
XR_002958720.1:n.2691A>C
XR_938347.2:n.2691A>C
NM_020461.4:c.2122A>C MANE Select NP_065194.3:p.Arg708=
Search 100 bp 5'
Search 100 bp 3'