Canonical Allele Identifier: CA325509644
Community Standard Title: NM_020461.4(TUBGCP6):c.4485-20C>G
Gene: TUBGCP6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50219229G>C , CM000684.2:g.50219229G>C GRCh38
NC_000022.10:g.50657658G>C , CM000684.1:g.50657658G>C GRCh37
NC_000022.9:g.48999785G>C NCBI36
NG_032160.1:g.30743C>G

Transcript Alleles

HGVS Amino-acid Change
NM_020461.4:c.4485-20C>G MANE Select NP_065194.3:n.4485-20C>G
ENST00000248846.10:c.4485-20C>G MANE Select ENSP00000248846.5:n.4485-20C>G
NM_020461.3:c.4485-20C>G NP_065194.2:n.4485-20C>G
ENST00000248846.9:c.4485-20C>G ENSP00000248846.5:n.4485-20C>G
ENST00000425018.1:c.543-20C>G ENSP00000405979.1:n.543-20C>G
ENST00000439308.6:c.*62-20C>G ENSP00000397387.2:n.*62-20C>G
ENST00000491449.5:n.3027-20C>G
ENST00000498611.5:n.4181-20C>G
XR_001755343.2:n.5113-20C>G
XR_001755344.2:n.5113-20C>G
XR_002958720.1:n.3430-20C>G
XR_938347.1:n.5050-20C>G
XR_938347.2:n.5054-20C>G
XR_938348.1:n.3426-20C>G