Canonical Allele Identifier: CA515376704

Gene: TUBGCP6

Linked Data

• ClinVar Variation Id: 2097251
• ClinVar RCV Id: RCV003016597
• dbSNP Id: rs2064499970
• gnomAD v4: 22-50220516-A-C
• MyVariant Identifiers: chr22:g.50658945A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50220516A>C , CM000684.2:g.50220516A>C	GRCh38
NC_000022.10:g.50658945A>C , CM000684.1:g.50658945A>C	GRCh37
NC_000022.9:g.49001072A>C	NCBI36
NG_032160.1:g.29456T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248846.10:c.3843T>G MANE Select	ENSP00000248846.5:p.Ala1281=
ENST00000248846.9:c.3843T>G	ENSP00000248846.5:p.Ala1281=
ENST00000439308.6:c.3843T>G	ENSP00000397387.2:p.Ala1281=
ENST00000491449.5:n.2150T>G
ENST00000498611.5:n.3618-501T>G
NM_020461.3:c.3843T>G	NP_065194.2:p.Ala1281=
XR_938347.1:n.4408T>G
XR_938348.1:n.3050-501T>G
XR_001755343.2:n.4412T>G
XR_001755344.2:n.4412T>G
XR_002958720.1:n.3054-501T>G
XR_938347.2:n.4412T>G
NM_020461.4:c.3843T>G MANE Select	NP_065194.3:p.Ala1281=