Canonical Allele Identifier: CA412182344

Gene: TUBGCP6

Linked Data

• ClinVar Variation Id: 2323783
• ClinVar RCV Id: RCV002934324
• gnomAD v4: 22-50220905-C-T
• MyVariant Identifiers: chr22:g.50659334C>T (hg19) ; chr22:g.50220905C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50220905C>T , CM000684.2:g.50220905C>T	GRCh38
NC_000022.10:g.50659334C>T , CM000684.1:g.50659334C>T	GRCh37
NC_000022.9:g.49001461C>T	NCBI36
NG_032160.1:g.29067G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248846.10:c.3454G>A MANE Select	ENSP00000248846.5:p.Ala1152Thr
ENST00000248846.9:c.3454G>A	ENSP00000248846.5:p.Ala1152Thr
ENST00000439308.6:c.3454G>A	ENSP00000397387.2:p.Ala1152Thr
ENST00000491449.5:n.1761G>A
ENST00000498611.5:n.3617+370G>A
NM_020461.3:c.3454G>A	NP_065194.2:p.Ala1152Thr
XR_938347.1:n.4019G>A
XR_938348.1:n.3050-890G>A
XR_001755343.2:n.4023G>A
XR_001755344.2:n.4023G>A
XR_002958720.1:n.3054-890G>A
XR_938347.2:n.4023G>A
NM_020461.4:c.3454G>A MANE Select	NP_065194.3:p.Ala1152Thr