Canonical Allele Identifier: CA412184118
Gene: TUBGCP6 HGNC NCBI

Linked Data

ClinVar Variation Id: 958106
ClinVar RCV Id: RCV001231210
dbSNP Id: rs1334294417
gnomAD v2: 22-50659541-C-T
gnomAD v3: 22-50221112-C-T
gnomAD v4: 22-50221112-C-T
MyVariant Identifiers: chr22:g.50659541C>T (hg19) chr22:g.50221112C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50221112C>T , CM000684.2:g.50221112C>T GRCh38
NC_000022.10:g.50659541C>T , CM000684.1:g.50659541C>T GRCh37
NC_000022.9:g.49001668C>T NCBI36
NG_032160.1:g.28860G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000248846.10:c.3247G>A MANE Select ENSP00000248846.5:p.Val1083Ile
ENST00000248846.9:c.3247G>A ENSP00000248846.5:p.Val1083Ile
ENST00000439308.6:c.3247G>A ENSP00000397387.2:p.Val1083Ile
ENST00000491449.5:n.1554G>A
ENST00000498611.5:n.3617+163G>A
NM_020461.3:c.3247G>A NP_065194.2:p.Val1083Ile
XR_938347.1:n.3812G>A
XR_938348.1:n.3049+916G>A
XR_001755343.2:n.3816G>A
XR_001755344.2:n.3816G>A
XR_002958720.1:n.3053+916G>A
XR_938347.2:n.3816G>A
NM_020461.4:c.3247G>A MANE Select NP_065194.3:p.Val1083Ile
Search 100 bp 5'
Search 100 bp 3'