Canonical Allele Identifier: CA10308335
Gene: TUBGCP6 HGNC NCBI

Linked Data

dbSNP Id: rs767318254
ExAC: 22:50662732 G / A
gnomAD v2: 22-50662732-G-A
gnomAD v4: 22-50224303-G-A
MyVariant Identifiers: chr22:g.50662732G>A (hg19) chr22:g.50224303G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50224303G>A , CM000684.2:g.50224303G>A GRCh38
NC_000022.10:g.50662732G>A , CM000684.1:g.50662732G>A GRCh37
NC_000022.9:g.49004859G>A NCBI36
NG_032160.1:g.25669C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000248846.10:c.2154+29C>T MANE Select ENSP00000248846.5:n.2154+29C>T
ENST00000248846.9:c.2154+29C>T ENSP00000248846.5:n.2154+29C>T
ENST00000439308.6:c.2154+29C>T ENSP00000397387.2:n.2154+29C>T
ENST00000473946.1:n.463+29C>T
ENST00000489511.5:n.171+29C>T
ENST00000491449.5:n.461+29C>T
ENST00000498611.5:n.2687+29C>T
NM_020461.3:c.2154+29C>T NP_065194.2:n.2154+29C>T
XR_938347.1:n.2719+29C>T
XR_938348.1:n.2719+29C>T
XR_001755343.2:n.2723+29C>T
XR_001755344.2:n.2723+29C>T
XR_002958720.1:n.2723+29C>T
XR_938347.2:n.2723+29C>T
NM_020461.4:c.2154+29C>T MANE Select NP_065194.3:n.2154+29C>T
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