Canonical Allele Identifier: CA412180522

Gene: TUBGCP6

Linked Data

• ClinVar Variation Id: 2546249
• ClinVar RCV Id: RCV003267574
• gnomAD v4: 22-50220638-T-C
• MyVariant Identifiers: chr22:g.50659067T>C (hg19) ; chr22:g.50220638T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50220638T>C , CM000684.2:g.50220638T>C	GRCh38
NC_000022.10:g.50659067T>C , CM000684.1:g.50659067T>C	GRCh37
NC_000022.9:g.49001194T>C	NCBI36
NG_032160.1:g.29334A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248846.10:c.3721A>G MANE Select	ENSP00000248846.5:p.Thr1241Ala
ENST00000248846.9:c.3721A>G	ENSP00000248846.5:p.Thr1241Ala
ENST00000439308.6:c.3721A>G	ENSP00000397387.2:p.Thr1241Ala
ENST00000491449.5:n.2028A>G
ENST00000498611.5:n.3618-623A>G
NM_020461.3:c.3721A>G	NP_065194.2:p.Thr1241Ala
XR_938347.1:n.4286A>G
XR_938348.1:n.3050-623A>G
XR_001755343.2:n.4290A>G
XR_001755344.2:n.4290A>G
XR_002958720.1:n.3054-623A>G
XR_938347.2:n.4290A>G
NM_020461.4:c.3721A>G MANE Select	NP_065194.3:p.Thr1241Ala