Canonical Allele Identifier: CA10307954

Gene: TUBGCP6

Linked Data

• dbSNP Id: rs752411815
• ExAC: 22:50659366 C / G
• gnomAD v2: 22-50659366-C-G
• gnomAD v4: 22-50220937-C-G
• MyVariant Identifiers: chr22:g.50659366C>G (hg19) ; chr22:g.50220937C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50220937C>G , CM000684.2:g.50220937C>G	GRCh38
NC_000022.10:g.50659366C>G , CM000684.1:g.50659366C>G	GRCh37
NC_000022.9:g.49001493C>G	NCBI36
NG_032160.1:g.29035G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248846.10:c.3422G>C MANE Select	ENSP00000248846.5:p.Ser1141Thr
ENST00000248846.9:c.3422G>C	ENSP00000248846.5:p.Ser1141Thr
ENST00000439308.6:c.3422G>C	ENSP00000397387.2:p.Ser1141Thr
ENST00000491449.5:n.1729G>C
ENST00000498611.5:n.3617+338G>C
NM_020461.3:c.3422G>C	NP_065194.2:p.Ser1141Thr
XR_938347.1:n.3987G>C
XR_938348.1:n.3050-922G>C
XR_001755343.2:n.3991G>C
XR_001755344.2:n.3991G>C
XR_002958720.1:n.3054-922G>C
XR_938347.2:n.3991G>C
NM_020461.4:c.3422G>C MANE Select	NP_065194.3:p.Ser1141Thr