Canonical Allele Identifier: CA412102819
Gene: TUBGCP6 HGNC NCBI

Linked Data

MyVariant Identifiers: chr22:g.50662765T>G (hg19) chr22:g.50224336T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50224336T>G , CM000684.2:g.50224336T>G GRCh38
NC_000022.10:g.50662765T>G , CM000684.1:g.50662765T>G GRCh37
NC_000022.9:g.49004892T>G NCBI36
NG_032160.1:g.25636A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000248846.10:c.2150A>C MANE Select ENSP00000248846.5:p.Gln717Pro
ENST00000248846.9:c.2150A>C ENSP00000248846.5:p.Gln717Pro
ENST00000439308.6:c.2150A>C ENSP00000397387.2:p.Gln717Pro
ENST00000473946.1:n.459A>C
ENST00000489511.5:n.167A>C
ENST00000491449.5:n.457A>C
ENST00000498611.5:n.2683A>C
NM_020461.3:c.2150A>C NP_065194.2:p.Gln717Pro
XR_938347.1:n.2715A>C
XR_938348.1:n.2715A>C
XR_001755343.2:n.2719A>C
XR_001755344.2:n.2719A>C
XR_002958720.1:n.2719A>C
XR_938347.2:n.2719A>C
NM_020461.4:c.2150A>C MANE Select NP_065194.3:p.Gln717Pro
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