Canonical Allele Identifier: CA412182718
Gene: TUBGCP6 HGNC NCBI

Linked Data

ClinVar Variation Id: 1485256
ClinVar RCV Id: RCV002030357
dbSNP Id: rs202082129
gnomAD v2: 22-50659385-C-A
gnomAD v3: 22-50220956-C-A
gnomAD v4: 22-50220956-C-A
MyVariant Identifiers: chr22:g.50659385C>A (hg19) chr22:g.50220956C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50220956C>A , CM000684.2:g.50220956C>A GRCh38
NC_000022.10:g.50659385C>A , CM000684.1:g.50659385C>A GRCh37
NC_000022.9:g.49001512C>A NCBI36
NG_032160.1:g.29016G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000248846.10:c.3403G>T MANE Select ENSP00000248846.5:p.Gly1135Trp
ENST00000248846.9:c.3403G>T ENSP00000248846.5:p.Gly1135Trp
ENST00000439308.6:c.3403G>T ENSP00000397387.2:p.Gly1135Trp
ENST00000491449.5:n.1710G>T
ENST00000498611.5:n.3617+319G>T
NM_020461.3:c.3403G>T NP_065194.2:p.Gly1135Trp
XR_938347.1:n.3968G>T
XR_938348.1:n.3050-941G>T
XR_001755343.2:n.3972G>T
XR_001755344.2:n.3972G>T
XR_002958720.1:n.3054-941G>T
XR_938347.2:n.3972G>T
NM_020461.4:c.3403G>T MANE Select NP_065194.3:p.Gly1135Trp
Search 100 bp 5'
Search 100 bp 3'