Canonical Allele Identifier: CA10307826
Gene: TUBGCP6 HGNC NCBI

Linked Data

ClinVar Variation Id: 1635164
ClinVar RCV Id: RCV002133244
dbSNP Id: rs573946523
ExAC: 22:50659017 C / T
gnomAD v2: 22-50659017-C-T
gnomAD v3: 22-50220588-C-T
gnomAD v4: 22-50220588-C-T
MyVariant Identifiers: chr22:g.50659017C>T (hg19) chr22:g.50220588C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50220588C>T , CM000684.2:g.50220588C>T GRCh38
NC_000022.10:g.50659017C>T , CM000684.1:g.50659017C>T GRCh37
NC_000022.9:g.49001144C>T NCBI36
NG_032160.1:g.29384G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000248846.10:c.3771G>A MANE Select ENSP00000248846.5:p.Ser1257=
ENST00000248846.9:c.3771G>A ENSP00000248846.5:p.Ser1257=
ENST00000439308.6:c.3771G>A ENSP00000397387.2:p.Ser1257=
ENST00000491449.5:n.2078G>A
ENST00000498611.5:n.3618-573G>A
NM_020461.3:c.3771G>A NP_065194.2:p.Ser1257=
XR_938347.1:n.4336G>A
XR_938348.1:n.3050-573G>A
XR_001755343.2:n.4340G>A
XR_001755344.2:n.4340G>A
XR_002958720.1:n.3054-573G>A
XR_938347.2:n.4340G>A
NM_020461.4:c.3771G>A MANE Select NP_065194.3:p.Ser1257=
Search 100 bp 5'
Search 100 bp 3'