Canonical Allele Identifier: CA10307863
Gene: TUBGCP6 HGNC NCBI

Linked Data

dbSNP Id: rs771047316
ExAC: 22:50659121 T / A
gnomAD v2: 22-50659121-T-A
gnomAD v3: 22-50220692-T-A
gnomAD v4: 22-50220692-T-A
MyVariant Identifiers: chr22:g.50659121T>A (hg19) chr22:g.50220692T>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50220692T>A , CM000684.2:g.50220692T>A GRCh38
NC_000022.10:g.50659121T>A , CM000684.1:g.50659121T>A GRCh37
NC_000022.9:g.49001248T>A NCBI36
NG_032160.1:g.29280A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000248846.10:c.3667A>T MANE Select ENSP00000248846.5:p.Ile1223Phe
ENST00000248846.9:c.3667A>T ENSP00000248846.5:p.Ile1223Phe
ENST00000439308.6:c.3667A>T ENSP00000397387.2:p.Ile1223Phe
ENST00000491449.5:n.1974A>T
ENST00000498611.5:n.3617+583A>T
NM_020461.3:c.3667A>T NP_065194.2:p.Ile1223Phe
XR_938347.1:n.4232A>T
XR_938348.1:n.3050-677A>T
XR_001755343.2:n.4236A>T
XR_001755344.2:n.4236A>T
XR_002958720.1:n.3054-677A>T
XR_938347.2:n.4236A>T
NM_020461.4:c.3667A>T MANE Select NP_065194.3:p.Ile1223Phe
Search 100 bp 5'
Search 100 bp 3'