Canonical Allele Identifier: CA412177759
Gene: TUBGCP6 HGNC NCBI

Linked Data

ClinVar Variation Id: 2106033
ClinVar RCV Id: RCV003023751
dbSNP Id: rs1337593836
gnomAD v2: 22-50658875-C-G
gnomAD v4: 22-50220446-C-G
MyVariant Identifiers: chr22:g.50658875C>G (hg19) chr22:g.50220446C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50220446C>G , CM000684.2:g.50220446C>G GRCh38
NC_000022.10:g.50658875C>G , CM000684.1:g.50658875C>G GRCh37
NC_000022.9:g.49001002C>G NCBI36
NG_032160.1:g.29526G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000248846.10:c.3913G>C MANE Select ENSP00000248846.5:p.Ala1305Pro
ENST00000248846.9:c.3913G>C ENSP00000248846.5:p.Ala1305Pro
ENST00000439308.6:c.3913G>C ENSP00000397387.2:p.Ala1305Pro
ENST00000491449.5:n.2220G>C
ENST00000498611.5:n.3618-431G>C
NM_020461.3:c.3913G>C NP_065194.2:p.Ala1305Pro
XR_938347.1:n.4478G>C
XR_938348.1:n.3050-431G>C
XR_001755343.2:n.4482G>C
XR_001755344.2:n.4482G>C
XR_002958720.1:n.3054-431G>C
XR_938347.2:n.4482G>C
NM_020461.4:c.3913G>C MANE Select NP_065194.3:p.Ala1305Pro
Search 100 bp 5'
Search 100 bp 3'