Canonical Allele Identifier: CA10307995

Gene: TUBGCP6

Linked Data

• dbSNP Id: rs749837141
• ExAC: 22:50659490 T / C
• gnomAD v2: 22-50659490-T-C
• gnomAD v3: 22-50221061-T-C
• gnomAD v4: 22-50221061-T-C
• MyVariant Identifiers: chr22:g.50659490T>C (hg19) ; chr22:g.50221061T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50221061T>C , CM000684.2:g.50221061T>C	GRCh38
NC_000022.10:g.50659490T>C , CM000684.1:g.50659490T>C	GRCh37
NC_000022.9:g.49001617T>C	NCBI36
NG_032160.1:g.28911A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248846.10:c.3298A>G MANE Select	ENSP00000248846.5:p.Thr1100Ala
ENST00000248846.9:c.3298A>G	ENSP00000248846.5:p.Thr1100Ala
ENST00000439308.6:c.3298A>G	ENSP00000397387.2:p.Thr1100Ala
ENST00000491449.5:n.1605A>G
ENST00000498611.5:n.3617+214A>G
NM_020461.3:c.3298A>G	NP_065194.2:p.Thr1100Ala
XR_938347.1:n.3863A>G
XR_938348.1:n.3049+967A>G
XR_001755343.2:n.3867A>G
XR_001755344.2:n.3867A>G
XR_002958720.1:n.3053+967A>G
XR_938347.2:n.3867A>G
NM_020461.4:c.3298A>G MANE Select	NP_065194.3:p.Thr1100Ala