Canonical Allele Identifier: CA412102877
Gene: TUBGCP6 HGNC NCBI

Linked Data

ClinVar Variation Id: 2018229
ClinVar RCV Id: RCV002830182
MyVariant Identifiers: chr22:g.50662775C>G (hg19) chr22:g.50224346C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50224346C>G , CM000684.2:g.50224346C>G GRCh38
NC_000022.10:g.50662775C>G , CM000684.1:g.50662775C>G GRCh37
NC_000022.9:g.49004902C>G NCBI36
NG_032160.1:g.25626G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000248846.10:c.2140G>C MANE Select ENSP00000248846.5:p.Val714Leu
ENST00000248846.9:c.2140G>C ENSP00000248846.5:p.Val714Leu
ENST00000439308.6:c.2140G>C ENSP00000397387.2:p.Val714Leu
ENST00000473946.1:n.449G>C
ENST00000489511.5:n.157G>C
ENST00000491449.5:n.447G>C
ENST00000498611.5:n.2673G>C
NM_020461.3:c.2140G>C NP_065194.2:p.Val714Leu
XR_938347.1:n.2705G>C
XR_938348.1:n.2705G>C
XR_001755343.2:n.2709G>C
XR_001755344.2:n.2709G>C
XR_002958720.1:n.2709G>C
XR_938347.2:n.2709G>C
NM_020461.4:c.2140G>C MANE Select NP_065194.3:p.Val714Leu
Search 100 bp 5'
Search 100 bp 3'