Canonical Allele Identifier: CA10307945
Gene: TUBGCP6 HGNC NCBI

Linked Data

ClinVar Variation Id: 1626770
ClinVar RCV Id: RCV002120579
dbSNP Id: rs181687065
ExAC: 22:50659341 C / T
gnomAD v2: 22-50659341-C-T
gnomAD v3: 22-50220912-C-T
gnomAD v4: 22-50220912-C-T
MyVariant Identifiers: chr22:g.50659341C>T (hg19) chr22:g.50220912C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50220912C>T , CM000684.2:g.50220912C>T GRCh38
NC_000022.10:g.50659341C>T , CM000684.1:g.50659341C>T GRCh37
NC_000022.9:g.49001468C>T NCBI36
NG_032160.1:g.29060G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000248846.10:c.3447G>A MANE Select ENSP00000248846.5:p.Ser1149=
ENST00000248846.9:c.3447G>A ENSP00000248846.5:p.Ser1149=
ENST00000439308.6:c.3447G>A ENSP00000397387.2:p.Ser1149=
ENST00000491449.5:n.1754G>A
ENST00000498611.5:n.3617+363G>A
NM_020461.3:c.3447G>A NP_065194.2:p.Ser1149=
XR_938347.1:n.4012G>A
XR_938348.1:n.3050-897G>A
XR_001755343.2:n.4016G>A
XR_001755344.2:n.4016G>A
XR_002958720.1:n.3054-897G>A
XR_938347.2:n.4016G>A
NM_020461.4:c.3447G>A MANE Select NP_065194.3:p.Ser1149=
Search 100 bp 5'
Search 100 bp 3'