Canonical Allele Identifier: CA10308341
Gene: TUBGCP6 HGNC NCBI

Linked Data

ClinVar Variation Id: 958542
ClinVar RCV Id: RCV001231730
dbSNP Id: rs753702719
ExAC: 22:50662767 G / C
gnomAD v2: 22-50662767-G-C
gnomAD v3: 22-50224338-G-C
gnomAD v4: 22-50224338-G-C
MyVariant Identifiers: chr22:g.50662767G>C (hg19) chr22:g.50224338G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50224338G>C , CM000684.2:g.50224338G>C GRCh38
NC_000022.10:g.50662767G>C , CM000684.1:g.50662767G>C GRCh37
NC_000022.9:g.49004894G>C NCBI36
NG_032160.1:g.25634C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000248846.10:c.2148C>G MANE Select ENSP00000248846.5:p.Asp716Glu
ENST00000248846.9:c.2148C>G ENSP00000248846.5:p.Asp716Glu
ENST00000439308.6:c.2148C>G ENSP00000397387.2:p.Asp716Glu
ENST00000473946.1:n.457C>G
ENST00000489511.5:n.165C>G
ENST00000491449.5:n.455C>G
ENST00000498611.5:n.2681C>G
NM_020461.3:c.2148C>G NP_065194.2:p.Asp716Glu
XR_938347.1:n.2713C>G
XR_938348.1:n.2713C>G
XR_001755343.2:n.2717C>G
XR_001755344.2:n.2717C>G
XR_002958720.1:n.2717C>G
XR_938347.2:n.2717C>G
NM_020461.4:c.2148C>G MANE Select NP_065194.3:p.Asp716Glu
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