Canonical Allele Identifier: CA10308056
Gene: TUBGCP6 HGNC NCBI

Linked Data

ClinVar Variation Id: 1103752
ClinVar RCV Id: RCV001427569
dbSNP Id: rs368098807

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50221269T>C , CM000684.2:g.50221269T>C GRCh38
NC_000022.10:g.50659698T>C , CM000684.1:g.50659698T>C GRCh37
NC_000022.9:g.49001825T>C NCBI36
NG_032160.1:g.28703A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000248846.10:c.3090A>G MANE Select ENSP00000248846.5:p.Ser1030=
ENST00000248846.9:c.3090A>G ENSP00000248846.5:p.Ser1030=
ENST00000439308.6:c.3090A>G ENSP00000397387.2:p.Ser1030=
ENST00000491449.5:n.1397A>G
ENST00000498611.5:n.3617+6A>G
NM_020461.3:c.3090A>G NP_065194.2:p.Ser1030=
XR_938347.1:n.3655A>G
XR_938348.1:n.3049+759A>G
XR_001755343.2:n.3659A>G
XR_001755344.2:n.3659A>G
XR_002958720.1:n.3053+759A>G
XR_938347.2:n.3659A>G
NM_020461.4:c.3090A>G MANE Select NP_065194.3:p.Ser1030=