Canonical Allele Identifier: CA10308330

Gene: TUBGCP6

Linked Data

• ClinVar Variation Id: 1539490
• ClinVar RCV Id: RCV002169625
• dbSNP Id: rs113835879
• ExAC: 22:50662705 T / C
• gnomAD v2: 22-50662705-T-C
• gnomAD v3: 22-50224276-T-C
• gnomAD v4: 22-50224276-T-C
• MyVariant Identifiers: chr22:g.50662705T>C (hg19) ; chr22:g.50224276T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50224276T>C , CM000684.2:g.50224276T>C	GRCh38
NC_000022.10:g.50662705T>C , CM000684.1:g.50662705T>C	GRCh37
NC_000022.9:g.49004832T>C	NCBI36
NG_032160.1:g.25696A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248846.10:c.2155-20A>G MANE Select	ENSP00000248846.5:n.2155-20A>G
ENST00000248846.9:c.2155-20A>G	ENSP00000248846.5:n.2155-20A>G
ENST00000439308.6:c.2155-20A>G	ENSP00000397387.2:n.2155-20A>G
ENST00000473946.1:n.464-20A>G
ENST00000489511.5:n.172-20A>G
ENST00000491449.5:n.462-20A>G
ENST00000498611.5:n.2688-20A>G
NM_020461.3:c.2155-20A>G	NP_065194.2:n.2155-20A>G
XR_938347.1:n.2720-20A>G
XR_938348.1:n.2720-20A>G
XR_001755343.2:n.2724-20A>G
XR_001755344.2:n.2724-20A>G
XR_002958720.1:n.2724-20A>G
XR_938347.2:n.2724-20A>G
NM_020461.4:c.2155-20A>G MANE Select	NP_065194.3:n.2155-20A>G