Canonical Allele Identifier: CA325512549

Gene: TUBGCP6

Linked Data

• ClinVar Variation Id: 1394977
• ClinVar RCV Id: RCV001927519
• dbSNP Id: rs112715789
• gnomAD v4: 22-50221271-A-C
• MyVariant Identifiers: chr22:g.50659700A>C (hg19) ; chr22:g.50221271A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50221271A>C , CM000684.2:g.50221271A>C	GRCh38
NC_000022.10:g.50659700A>C , CM000684.1:g.50659700A>C	GRCh37
NC_000022.9:g.49001827A>C	NCBI36
NG_032160.1:g.28701T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248846.10:c.3088T>G MANE Select	ENSP00000248846.5:p.Ser1030Ala
ENST00000248846.9:c.3088T>G	ENSP00000248846.5:p.Ser1030Ala
ENST00000439308.6:c.3088T>G	ENSP00000397387.2:p.Ser1030Ala
ENST00000491449.5:n.1395T>G
ENST00000498611.5:n.3617+4T>G
NM_020461.3:c.3088T>G	NP_065194.2:p.Ser1030Ala
XR_938347.1:n.3653T>G
XR_938348.1:n.3049+757T>G
XR_001755343.2:n.3657T>G
XR_001755344.2:n.3657T>G
XR_002958720.1:n.3053+757T>G
XR_938347.2:n.3657T>G
NM_020461.4:c.3088T>G MANE Select	NP_065194.3:p.Ser1030Ala