Canonical Allele Identifier: CA412102987
Gene: TUBGCP6 HGNC NCBI

Linked Data

ClinVar Variation Id: 1378379
ClinVar RCV Id: RCV001881110
dbSNP Id: rs2064573382
gnomAD v3: 22-50224366-T-G
gnomAD v4: 22-50224366-T-G
MyVariant Identifiers: chr22:g.50662795T>G (hg19) chr22:g.50224366T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50224366T>G , CM000684.2:g.50224366T>G GRCh38
NC_000022.10:g.50662795T>G , CM000684.1:g.50662795T>G GRCh37
NC_000022.9:g.49004922T>G NCBI36
NG_032160.1:g.25606A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000248846.10:c.2120A>C MANE Select ENSP00000248846.5:p.Gln707Pro
ENST00000248846.9:c.2120A>C ENSP00000248846.5:p.Gln707Pro
ENST00000439308.6:c.2120A>C ENSP00000397387.2:p.Gln707Pro
ENST00000473946.1:n.429A>C
ENST00000489511.5:n.137A>C
ENST00000491449.5:n.427A>C
ENST00000498611.5:n.2653A>C
NM_020461.3:c.2120A>C NP_065194.2:p.Gln707Pro
XR_938347.1:n.2685A>C
XR_938348.1:n.2685A>C
XR_001755343.2:n.2689A>C
XR_001755344.2:n.2689A>C
XR_002958720.1:n.2689A>C
XR_938347.2:n.2689A>C
NM_020461.4:c.2120A>C MANE Select NP_065194.3:p.Gln707Pro
Search 100 bp 5'
Search 100 bp 3'