Canonical Allele Identifier: CA390611914
Gene: CCDC88C HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.91338126G>C , CM000676.2:g.91338126G>C GRCh38
NC_000014.8:g.91804470G>C , CM000676.1:g.91804470G>C GRCh37
NC_000014.7:g.90874223G>C NCBI36
NG_033118.1:g.84719C>G
NG_033118.2:g.84719C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000389857.11:c.929C>G MANE Select ENSP00000374507.6:p.Ala310Gly
ENST00000389857.10:c.929C>G ENSP00000374507.6:p.Ala310Gly
ENST00000554051.1:n.406C>G
NM_001080414.3:c.929C>G NP_001073883.2:p.Ala310Gly
XM_005267691.3:c.929C>G XP_005267748.1:p.Ala310Gly
XM_011536796.1:c.821C>G XP_011535098.1:p.Ala274Gly
XR_429316.2:n.1057C>G
XR_943459.1:n.1057C>G
XM_005267691.5:c.929C>G XP_005267748.1:p.Ala310Gly
XM_011536796.2:c.821C>G XP_011535098.1:p.Ala274Gly
XM_017021335.2:c.929C>G XP_016876824.1:p.Ala310Gly
XM_017021337.2:c.929C>G XP_016876826.1:p.Ala310Gly
XR_429316.4:n.1055C>G
NM_001080414.4:c.929C>G MANE Select NP_001073883.2:p.Ala310Gly