Canonical Allele Identifier: CA412184205
Gene: TUBGCP6 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50221126T>G , CM000684.2:g.50221126T>G GRCh38
NC_000022.10:g.50659555T>G , CM000684.1:g.50659555T>G GRCh37
NC_000022.9:g.49001682T>G NCBI36
NG_032160.1:g.28846A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000248846.10:c.3233A>C MANE Select ENSP00000248846.5:p.Asn1078Thr
ENST00000248846.9:c.3233A>C ENSP00000248846.5:p.Asn1078Thr
ENST00000439308.6:c.3233A>C ENSP00000397387.2:p.Asn1078Thr
ENST00000491449.5:n.1540A>C
ENST00000498611.5:n.3617+149A>C
NM_020461.3:c.3233A>C NP_065194.2:p.Asn1078Thr
XR_938347.1:n.3798A>C
XR_938348.1:n.3049+902A>C
XR_001755343.2:n.3802A>C
XR_001755344.2:n.3802A>C
XR_002958720.1:n.3053+902A>C
XR_938347.2:n.3802A>C
NM_020461.4:c.3233A>C MANE Select NP_065194.3:p.Asn1078Thr