Canonical Allele Identifier: CA10308053
Gene: TUBGCP6 HGNC NCBI

Linked Data

ClinVar Variation Id: 714910
ClinVar RCV Id: RCV000887302
dbSNP Id: rs115728769
ExAC: 22:50659696 C / G
gnomAD v2: 22-50659696-C-G
gnomAD v3: 22-50221267-C-G
gnomAD v4: 22-50221267-C-G
MyVariant Identifiers: chr22:g.50659696C>G (hg19) chr22:g.50659696_50659698delinsGCT (hg19) chr22:g.50221267C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50221267C>G , CM000684.2:g.50221267C>G GRCh38
NC_000022.10:g.50659696C>G , CM000684.1:g.50659696C>G GRCh37
NC_000022.9:g.49001823C>G NCBI36
NG_032160.1:g.28705G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000248846.10:c.3092G>C MANE Select ENSP00000248846.5:p.Gly1031Ala
ENST00000248846.9:c.3092G>C ENSP00000248846.5:p.Gly1031Ala
ENST00000439308.6:c.3092G>C ENSP00000397387.2:p.Gly1031Ala
ENST00000491449.5:n.1399G>C
ENST00000498611.5:n.3617+8G>C
NM_020461.3:c.3092G>C NP_065194.2:p.Gly1031Ala
XR_938347.1:n.3657G>C
XR_938348.1:n.3049+761G>C
XR_001755343.2:n.3661G>C
XR_001755344.2:n.3661G>C
XR_002958720.1:n.3053+761G>C
XR_938347.2:n.3661G>C
NM_020461.4:c.3092G>C MANE Select NP_065194.3:p.Gly1031Ala
Search 100 bp 5'
Search 100 bp 3'