Canonical Allele Identifier: CA325512414

Gene: TUBGCP6

Linked Data

• ClinVar Variation Id: 2037483
• ClinVar RCV Id: RCV002882220
• dbSNP Id: rs1034822594
• gnomAD v2: 22-50659513-T-C
• gnomAD v3: 22-50221084-T-C
• gnomAD v4: 22-50221084-T-C
• MyVariant Identifiers: chr22:g.50659513T>C (hg19) ; chr22:g.50221084T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50221084T>C , CM000684.2:g.50221084T>C	GRCh38
NC_000022.10:g.50659513T>C , CM000684.1:g.50659513T>C	GRCh37
NC_000022.9:g.49001640T>C	NCBI36
NG_032160.1:g.28888A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248846.10:c.3275A>G MANE Select	ENSP00000248846.5:p.Glu1092Gly
ENST00000248846.9:c.3275A>G	ENSP00000248846.5:p.Glu1092Gly
ENST00000439308.6:c.3275A>G	ENSP00000397387.2:p.Glu1092Gly
ENST00000491449.5:n.1582A>G
ENST00000498611.5:n.3617+191A>G
NM_020461.3:c.3275A>G	NP_065194.2:p.Glu1092Gly
XR_938347.1:n.3840A>G
XR_938348.1:n.3049+944A>G
XR_001755343.2:n.3844A>G
XR_001755344.2:n.3844A>G
XR_002958720.1:n.3053+944A>G
XR_938347.2:n.3844A>G
NM_020461.4:c.3275A>G MANE Select	NP_065194.3:p.Glu1092Gly