Canonical Allele Identifier: CA390611973
Gene: CCDC88C HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.91338157G>A , CM000676.2:g.91338157G>A GRCh38
NC_000014.8:g.91804501G>A , CM000676.1:g.91804501G>A GRCh37
NC_000014.7:g.90874254G>A NCBI36
NG_033118.1:g.84688C>T
NG_033118.2:g.84688C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000389857.11:c.898C>T MANE Select ENSP00000374507.6:p.Gln300Ter
ENST00000389857.10:c.898C>T ENSP00000374507.6:p.Gln300Ter
ENST00000554051.1:n.375C>T
NM_001080414.3:c.898C>T NP_001073883.2:p.Gln300Ter
XM_005267691.3:c.898C>T XP_005267748.1:p.Gln300Ter
XM_011536796.1:c.790C>T XP_011535098.1:p.Gln264Ter
XR_429316.2:n.1026C>T
XR_943459.1:n.1026C>T
XM_005267691.5:c.898C>T XP_005267748.1:p.Gln300Ter
XM_011536796.2:c.790C>T XP_011535098.1:p.Gln264Ter
XM_017021335.2:c.898C>T XP_016876824.1:p.Gln300Ter
XM_017021337.2:c.898C>T XP_016876826.1:p.Gln300Ter
XR_429316.4:n.1024C>T
NM_001080414.4:c.898C>T MANE Select NP_001073883.2:p.Gln300Ter