Canonical Allele Identifier: CA251204
Gene: TUBGCP6 HGNC NCBI

Linked Data

ClinVar Variation Id: 162403
ClinVar RCV Id: RCV000149798 RCV002510792
dbSNP Id: rs724159975
gnomAD v2: 22-50662625-G-A
gnomAD v3: 22-50224196-G-A
gnomAD v4: 22-50224196-G-A
COSMIC: COSM726745
MyVariant Identifiers: chr22:g.50662625G>A (hg19) chr22:g.50224196G>A (hg38)
PubMed: PMID:25344692
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50224196G>A , CM000684.2:g.50224196G>A GRCh38
NC_000022.10:g.50662625G>A , CM000684.1:g.50662625G>A GRCh37
NC_000022.9:g.49004752G>A NCBI36
NG_032160.1:g.25776C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000248846.10:c.2215C>T MANE Select ENSP00000248846.5:p.Arg739Ter
ENST00000248846.9:c.2215C>T ENSP00000248846.5:p.Arg739Ter
ENST00000439308.6:c.2215C>T ENSP00000397387.2:p.Arg739Ter
ENST00000473946.1:n.524C>T
ENST00000489511.5:n.232C>T
ENST00000491449.5:n.522C>T
ENST00000498611.5:n.2748C>T
NM_020461.3:c.2215C>T NP_065194.2:p.Arg739Ter
XR_938347.1:n.2780C>T
XR_938348.1:n.2780C>T
XR_001755343.2:n.2784C>T
XR_001755344.2:n.2784C>T
XR_002958720.1:n.2784C>T
XR_938347.2:n.2784C>T
NM_020461.4:c.2215C>T MANE Select NP_065194.3:p.Arg739Ter
Search 100 bp 5'
Search 100 bp 3'