Canonical Allele Identifier: CA10307901
Gene: TUBGCP6 HGNC NCBI

Linked Data

dbSNP Id: rs767954893
ExAC: 22:50659213 G / A
gnomAD v2: 22-50659213-G-A
gnomAD v3: 22-50220784-G-A
gnomAD v4: 22-50220784-G-A
MyVariant Identifiers: chr22:g.50659213G>A (hg19) chr22:g.50220784G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50220784G>A , CM000684.2:g.50220784G>A GRCh38
NC_000022.10:g.50659213G>A , CM000684.1:g.50659213G>A GRCh37
NC_000022.9:g.49001340G>A NCBI36
NG_032160.1:g.29188C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000248846.10:c.3575C>T MANE Select ENSP00000248846.5:p.Ser1192Phe
ENST00000248846.9:c.3575C>T ENSP00000248846.5:p.Ser1192Phe
ENST00000439308.6:c.3575C>T ENSP00000397387.2:p.Ser1192Phe
ENST00000491449.5:n.1882C>T
ENST00000498611.5:n.3617+491C>T
NM_020461.3:c.3575C>T NP_065194.2:p.Ser1192Phe
XR_938347.1:n.4140C>T
XR_938348.1:n.3050-769C>T
XR_001755343.2:n.4144C>T
XR_001755344.2:n.4144C>T
XR_002958720.1:n.3054-769C>T
XR_938347.2:n.4144C>T
NM_020461.4:c.3575C>T MANE Select NP_065194.3:p.Ser1192Phe
Search 100 bp 5'
Search 100 bp 3'