Canonical Allele Identifier: CA325512434
Gene: TUBGCP6 HGNC NCBI

Linked Data

ClinVar Variation Id: 1467751
ClinVar RCV Id: RCV001993490
dbSNP Id: rs372021422
gnomAD v2: 22-50659542-G-C
gnomAD v3: 22-50221113-G-C
gnomAD v4: 22-50221113-G-C
MyVariant Identifiers: chr22:g.50659542G>C (hg19) chr22:g.50221113G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50221113G>C , CM000684.2:g.50221113G>C GRCh38
NC_000022.10:g.50659542G>C , CM000684.1:g.50659542G>C GRCh37
NC_000022.9:g.49001669G>C NCBI36
NG_032160.1:g.28859C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000248846.10:c.3246C>G MANE Select ENSP00000248846.5:p.His1082Gln
ENST00000248846.9:c.3246C>G ENSP00000248846.5:p.His1082Gln
ENST00000439308.6:c.3246C>G ENSP00000397387.2:p.His1082Gln
ENST00000491449.5:n.1553C>G
ENST00000498611.5:n.3617+162C>G
NM_020461.3:c.3246C>G NP_065194.2:p.His1082Gln
XR_938347.1:n.3811C>G
XR_938348.1:n.3049+915C>G
XR_001755343.2:n.3815C>G
XR_001755344.2:n.3815C>G
XR_002958720.1:n.3053+915C>G
XR_938347.2:n.3815C>G
NM_020461.4:c.3246C>G MANE Select NP_065194.3:p.His1082Gln
Search 100 bp 5'
Search 100 bp 3'