Canonical Allele Identifier: CA2573158266
Gene: TUBGCP6 HGNC NCBI

Linked Data

ClinVar Variation Id: 1663698
ClinVar RCV Id: RCV002188637
dbSNP Id: rs2147184983
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50224323C>T , CM000684.2:g.50224323C>T GRCh38
NC_000022.10:g.50662752C>T , CM000684.1:g.50662752C>T GRCh37
NC_000022.9:g.49004879C>T NCBI36
NG_032160.1:g.25649G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000248846.10:c.2154+9G>A MANE Select ENSP00000248846.5:n.2154+9G>A
ENST00000248846.9:c.2154+9G>A ENSP00000248846.5:n.2154+9G>A
ENST00000439308.6:c.2154+9G>A ENSP00000397387.2:n.2154+9G>A
ENST00000473946.1:n.463+9G>A
ENST00000489511.5:n.171+9G>A
ENST00000491449.5:n.461+9G>A
ENST00000498611.5:n.2687+9G>A
NM_020461.3:c.2154+9G>A NP_065194.2:n.2154+9G>A
XR_938347.1:n.2719+9G>A
XR_938348.1:n.2719+9G>A
XR_001755343.2:n.2723+9G>A
XR_001755344.2:n.2723+9G>A
XR_002958720.1:n.2723+9G>A
XR_938347.2:n.2723+9G>A
NM_020461.4:c.2154+9G>A MANE Select NP_065194.3:n.2154+9G>A
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