Canonical Allele Identifier: CA515376356
Gene: TUBGCP6 HGNC NCBI

Linked Data

ClinVar Variation Id: 437149
ClinVar RCV Id: RCV000503669 RCV002527303
dbSNP Id: rs1266725037
gnomAD v2: 22-50659406-T-G
gnomAD v3: 22-50220977-T-G
gnomAD v4: 22-50220977-T-G
MyVariant Identifiers: chr22:g.50659406T>G (hg19) chr22:g.50220977T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50220977T>G , CM000684.2:g.50220977T>G GRCh38
NC_000022.10:g.50659406T>G , CM000684.1:g.50659406T>G GRCh37
NC_000022.9:g.49001533T>G NCBI36
NG_032160.1:g.28995A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000248846.10:c.3382A>C MANE Select ENSP00000248846.5:p.Arg1128=
ENST00000248846.9:c.3382A>C ENSP00000248846.5:p.Arg1128=
ENST00000439308.6:c.3382A>C ENSP00000397387.2:p.Arg1128=
ENST00000491449.5:n.1689A>C
ENST00000498611.5:n.3617+298A>C
NM_020461.3:c.3382A>C NP_065194.2:p.Arg1128=
XR_938347.1:n.3947A>C
XR_938348.1:n.3050-962A>C
XR_001755343.2:n.3951A>C
XR_001755344.2:n.3951A>C
XR_002958720.1:n.3054-962A>C
XR_938347.2:n.3951A>C
NM_020461.4:c.3382A>C MANE Select NP_065194.3:p.Arg1128=
Search 100 bp 5'
Search 100 bp 3'