Canonical Allele Identifier: CA412185054
Gene: TUBGCP6 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50221282A>C , CM000684.2:g.50221282A>C GRCh38
NC_000022.10:g.50659711A>C , CM000684.1:g.50659711A>C GRCh37
NC_000022.9:g.49001838A>C NCBI36
NG_032160.1:g.28690T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000248846.10:c.3077T>G MANE Select ENSP00000248846.5:p.Phe1026Cys
ENST00000248846.9:c.3077T>G ENSP00000248846.5:p.Phe1026Cys
ENST00000439308.6:c.3077T>G ENSP00000397387.2:p.Phe1026Cys
ENST00000491449.5:n.1384T>G
ENST00000498611.5:n.3610T>G
NM_020461.3:c.3077T>G NP_065194.2:p.Phe1026Cys
XR_938347.1:n.3642T>G
XR_938348.1:n.3049+746T>G
XR_001755343.2:n.3646T>G
XR_001755344.2:n.3646T>G
XR_002958720.1:n.3053+746T>G
XR_938347.2:n.3646T>G
NM_020461.4:c.3077T>G MANE Select NP_065194.3:p.Phe1026Cys