Canonical Allele Identifier: CA2657501824
Gene: TUBGCP6 HGNC NCBI

Linked Data

gnomAD v4: 22-50224316-G-C
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50224316G>C , CM000684.2:g.50224316G>C GRCh38
NC_000022.10:g.50662745G>C , CM000684.1:g.50662745G>C GRCh37
NC_000022.9:g.49004872G>C NCBI36
NG_032160.1:g.25656C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000248846.10:c.2154+16C>G MANE Select ENSP00000248846.5:n.2154+16C>G
ENST00000248846.9:c.2154+16C>G ENSP00000248846.5:n.2154+16C>G
ENST00000439308.6:c.2154+16C>G ENSP00000397387.2:n.2154+16C>G
ENST00000473946.1:n.463+16C>G
ENST00000489511.5:n.171+16C>G
ENST00000491449.5:n.461+16C>G
ENST00000498611.5:n.2687+16C>G
NM_020461.3:c.2154+16C>G NP_065194.2:n.2154+16C>G
XR_938347.1:n.2719+16C>G
XR_938348.1:n.2719+16C>G
XR_001755343.2:n.2723+16C>G
XR_001755344.2:n.2723+16C>G
XR_002958720.1:n.2723+16C>G
XR_938347.2:n.2723+16C>G
NM_020461.4:c.2154+16C>G MANE Select NP_065194.3:n.2154+16C>G
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