Canonical Allele Identifier: CA10308023

Gene: TUBGCP6

Linked Data

• ClinVar Variation Id: 714918
• ClinVar RCV Id: RCV000887311
• dbSNP Id: rs117613659
• ExAC: 22:50659599 G / C
• gnomAD v2: 22-50659599-G-C
• gnomAD v3: 22-50221170-G-C
• gnomAD v4: 22-50221170-G-C
• MyVariant Identifiers: chr22:g.50659599G>C (hg19) ; chr22:g.50221170G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50221170G>C , CM000684.2:g.50221170G>C	GRCh38
NC_000022.10:g.50659599G>C , CM000684.1:g.50659599G>C	GRCh37
NC_000022.9:g.49001726G>C	NCBI36
NG_032160.1:g.28802C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248846.10:c.3189C>G MANE Select	ENSP00000248846.5:p.Val1063=
ENST00000248846.9:c.3189C>G	ENSP00000248846.5:p.Val1063=
ENST00000439308.6:c.3189C>G	ENSP00000397387.2:p.Val1063=
ENST00000491449.5:n.1496C>G
ENST00000498611.5:n.3617+105C>G
NM_020461.3:c.3189C>G	NP_065194.2:p.Val1063=
XR_938347.1:n.3754C>G
XR_938348.1:n.3049+858C>G
XR_001755343.2:n.3758C>G
XR_001755344.2:n.3758C>G
XR_002958720.1:n.3053+858C>G
XR_938347.2:n.3758C>G
NM_020461.4:c.3189C>G MANE Select	NP_065194.3:p.Val1063=