Canonical Allele Identifier: CA10308050
Gene: TUBGCP6 HGNC NCBI

Linked Data

ClinVar Variation Id: 1143921
ClinVar RCV Id: RCV001482217
dbSNP Id: rs749947252
ExAC: 22:50659671 G / A
gnomAD v2: 22-50659671-G-A
gnomAD v4: 22-50221242-G-A
MyVariant Identifiers: chr22:g.50659671G>A (hg19) chr22:g.50221242G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50221242G>A , CM000684.2:g.50221242G>A GRCh38
NC_000022.10:g.50659671G>A , CM000684.1:g.50659671G>A GRCh37
NC_000022.9:g.49001798G>A NCBI36
NG_032160.1:g.28730C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000248846.10:c.3117C>T MANE Select ENSP00000248846.5:p.Tyr1039=
ENST00000248846.9:c.3117C>T ENSP00000248846.5:p.Tyr1039=
ENST00000439308.6:c.3117C>T ENSP00000397387.2:p.Tyr1039=
ENST00000491449.5:n.1424C>T
ENST00000498611.5:n.3617+33C>T
NM_020461.3:c.3117C>T NP_065194.2:p.Tyr1039=
XR_938347.1:n.3682C>T
XR_938348.1:n.3049+786C>T
XR_001755343.2:n.3686C>T
XR_001755344.2:n.3686C>T
XR_002958720.1:n.3053+786C>T
XR_938347.2:n.3686C>T
NM_020461.4:c.3117C>T MANE Select NP_065194.3:p.Tyr1039=
Search 100 bp 5'
Search 100 bp 3'