Canonical Allele Identifier: CA515376069
Gene: TUBGCP6 HGNC NCBI

Linked Data

MyVariant Identifiers: chr22:g.50659560C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50221131C>G , CM000684.2:g.50221131C>G GRCh38
NC_000022.10:g.50659560C>G , CM000684.1:g.50659560C>G GRCh37
NC_000022.9:g.49001687C>G NCBI36
NG_032160.1:g.28841G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000248846.10:c.3228G>C MANE Select ENSP00000248846.5:p.Arg1076=
ENST00000248846.9:c.3228G>C ENSP00000248846.5:p.Arg1076=
ENST00000439308.6:c.3228G>C ENSP00000397387.2:p.Arg1076=
ENST00000491449.5:n.1535G>C
ENST00000498611.5:n.3617+144G>C
NM_020461.3:c.3228G>C NP_065194.2:p.Arg1076=
XR_938347.1:n.3793G>C
XR_938348.1:n.3049+897G>C
XR_001755343.2:n.3797G>C
XR_001755344.2:n.3797G>C
XR_002958720.1:n.3053+897G>C
XR_938347.2:n.3797G>C
NM_020461.4:c.3228G>C MANE Select NP_065194.3:p.Arg1076=