Canonical Allele Identifier: CA10307950
Gene: TUBGCP6 HGNC NCBI

Linked Data

ClinVar Variation Id: 2117164
ClinVar RCV Id: RCV003027602
dbSNP Id: rs778649623
ExAC: 22:50659356 A / G
gnomAD v2: 22-50659356-A-G
gnomAD v3: 22-50220927-A-G
gnomAD v4: 22-50220927-A-G
COSMIC: COSM6305342
MyVariant Identifiers: chr22:g.50659356A>G (hg19) chr22:g.50220927A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50220927A>G , CM000684.2:g.50220927A>G GRCh38
NC_000022.10:g.50659356A>G , CM000684.1:g.50659356A>G GRCh37
NC_000022.9:g.49001483A>G NCBI36
NG_032160.1:g.29045T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000248846.10:c.3432T>C MANE Select ENSP00000248846.5:p.Val1144=
ENST00000248846.9:c.3432T>C ENSP00000248846.5:p.Val1144=
ENST00000439308.6:c.3432T>C ENSP00000397387.2:p.Val1144=
ENST00000491449.5:n.1739T>C
ENST00000498611.5:n.3617+348T>C
NM_020461.3:c.3432T>C NP_065194.2:p.Val1144=
XR_938347.1:n.3997T>C
XR_938348.1:n.3050-912T>C
XR_001755343.2:n.4001T>C
XR_001755344.2:n.4001T>C
XR_002958720.1:n.3054-912T>C
XR_938347.2:n.4001T>C
NM_020461.4:c.3432T>C MANE Select NP_065194.3:p.Val1144=
Search 100 bp 5'
Search 100 bp 3'