Canonical Allele Identifier: CA171522
Gene: CCDC88C HGNC NCBI

Linked Data

ClinVar Variation Id: 158106
dbSNP Id: rs61745604

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.91359660C>T , CM000676.2:g.91359660C>T GRCh38
NC_000014.8:g.91826004C>T , CM000676.1:g.91826004C>T GRCh37
NC_000014.7:g.90895757C>T NCBI36
NG_033118.1:g.63185G>A
NG_033118.2:g.63185G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000389857.11:c.322G>A MANE Select ENSP00000374507.6:p.Gly108Ser
ENST00000389857.10:c.322G>A ENSP00000374507.6:p.Gly108Ser
ENST00000553437.1:n.152G>A
ENST00000554872.5:n.262G>A
NM_001080414.3:c.322G>A NP_001073883.2:p.Gly108Ser
XM_005267691.3:c.322G>A XP_005267748.1:p.Gly108Ser
XM_011536796.1:c.214G>A XP_011535098.1:p.Gly72Ser
XR_429316.2:n.450G>A
XR_943459.1:n.450G>A
XM_005267691.5:c.322G>A XP_005267748.1:p.Gly108Ser
XM_011536796.2:c.214G>A XP_011535098.1:p.Gly72Ser
XM_017021335.2:c.322G>A XP_016876824.1:p.Gly108Ser
XM_017021337.2:c.322G>A XP_016876826.1:p.Gly108Ser
XR_429316.4:n.448G>A
NM_001080414.4:c.322G>A MANE Select NP_001073883.2:p.Gly108Ser