Canonical Allele Identifier: CA10308345
Gene: TUBGCP6 HGNC NCBI

Linked Data

ClinVar Variation Id: 1898277
ClinVar RCV Id: RCV002569988
dbSNP Id: rs757953659
ExAC: 22:50662798 A / C
gnomAD v2: 22-50662798-A-C
gnomAD v4: 22-50224369-A-C
MyVariant Identifiers: chr22:g.50662798A>C (hg19) chr22:g.50224369A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50224369A>C , CM000684.2:g.50224369A>C GRCh38
NC_000022.10:g.50662798A>C , CM000684.1:g.50662798A>C GRCh37
NC_000022.9:g.49004925A>C NCBI36
NG_032160.1:g.25603T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000248846.10:c.2117T>G MANE Select ENSP00000248846.5:p.Phe706Cys
ENST00000248846.9:c.2117T>G ENSP00000248846.5:p.Phe706Cys
ENST00000439308.6:c.2117T>G ENSP00000397387.2:p.Phe706Cys
ENST00000473946.1:n.426T>G
ENST00000489511.5:n.134T>G
ENST00000491449.5:n.424T>G
ENST00000498611.5:n.2650T>G
NM_020461.3:c.2117T>G NP_065194.2:p.Phe706Cys
XR_938347.1:n.2682T>G
XR_938348.1:n.2682T>G
XR_001755343.2:n.2686T>G
XR_001755344.2:n.2686T>G
XR_002958720.1:n.2686T>G
XR_938347.2:n.2686T>G
NM_020461.4:c.2117T>G MANE Select NP_065194.3:p.Phe706Cys
Search 100 bp 5'
Search 100 bp 3'