Canonical Allele Identifier: CA10307861
Gene: TUBGCP6 HGNC NCBI

Linked Data

ClinVar Variation Id: 1007455
ClinVar RCV Id: RCV001304639
dbSNP Id: rs773481416
ExAC: 22:50659114 A / G
gnomAD v2: 22-50659114-A-G
gnomAD v3: 22-50220685-A-G
gnomAD v4: 22-50220685-A-G
MyVariant Identifiers: chr22:g.50659114A>G (hg19) chr22:g.50220685A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50220685A>G , CM000684.2:g.50220685A>G GRCh38
NC_000022.10:g.50659114A>G , CM000684.1:g.50659114A>G GRCh37
NC_000022.9:g.49001241A>G NCBI36
NG_032160.1:g.29287T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000248846.10:c.3674T>C MANE Select ENSP00000248846.5:p.Val1225Ala
ENST00000248846.9:c.3674T>C ENSP00000248846.5:p.Val1225Ala
ENST00000439308.6:c.3674T>C ENSP00000397387.2:p.Val1225Ala
ENST00000491449.5:n.1981T>C
ENST00000498611.5:n.3617+590T>C
NM_020461.3:c.3674T>C NP_065194.2:p.Val1225Ala
XR_938347.1:n.4239T>C
XR_938348.1:n.3050-670T>C
XR_001755343.2:n.4243T>C
XR_001755344.2:n.4243T>C
XR_002958720.1:n.3054-670T>C
XR_938347.2:n.4243T>C
NM_020461.4:c.3674T>C MANE Select NP_065194.3:p.Val1225Ala
Search 100 bp 5'
Search 100 bp 3'