Canonical Allele Identifier: CA412181184
Gene: TUBGCP6 HGNC NCBI

Linked Data

ClinVar Variation Id: 1035252
ClinVar RCV Id: RCV001338093 RCV002546838
dbSNP Id: rs1307570133
gnomAD v2: 22-50659152-C-A
gnomAD v4: 22-50220723-C-A
MyVariant Identifiers: chr22:g.50659152C>A (hg19) chr22:g.50220723C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50220723C>A , CM000684.2:g.50220723C>A GRCh38
NC_000022.10:g.50659152C>A , CM000684.1:g.50659152C>A GRCh37
NC_000022.9:g.49001279C>A NCBI36
NG_032160.1:g.29249G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000248846.10:c.3636G>T MANE Select ENSP00000248846.5:p.Trp1212Cys
ENST00000248846.9:c.3636G>T ENSP00000248846.5:p.Trp1212Cys
ENST00000439308.6:c.3636G>T ENSP00000397387.2:p.Trp1212Cys
ENST00000491449.5:n.1943G>T
ENST00000498611.5:n.3617+552G>T
NM_020461.3:c.3636G>T NP_065194.2:p.Trp1212Cys
XR_938347.1:n.4201G>T
XR_938348.1:n.3050-708G>T
XR_001755343.2:n.4205G>T
XR_001755344.2:n.4205G>T
XR_002958720.1:n.3054-708G>T
XR_938347.2:n.4205G>T
NM_020461.4:c.3636G>T MANE Select NP_065194.3:p.Trp1212Cys
Search 100 bp 5'
Search 100 bp 3'