Canonical Allele Identifier: CA2575603517
Gene: CCDC88C HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.91338206C>T , CM000676.2:g.91338206C>T GRCh38
NC_000014.8:g.91804550C>T , CM000676.1:g.91804550C>T GRCh37
NC_000014.7:g.90874303C>T NCBI36
NG_033118.1:g.84639G>A
NG_033118.2:g.84639G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000389857.11:c.892-43G>A MANE Select ENSP00000374507.6:n.892-43G>A
ENST00000389857.10:c.892-43G>A ENSP00000374507.6:n.892-43G>A
ENST00000554051.1:n.369-43G>A
NM_001080414.3:c.892-43G>A NP_001073883.2:n.892-43G>A
XM_005267691.3:c.892-43G>A XP_005267748.1:n.892-43G>A
XM_011536796.1:c.784-43G>A XP_011535098.1:n.784-43G>A
XR_429316.2:n.1020-43G>A
XR_943459.1:n.1020-43G>A
XM_005267691.5:c.892-43G>A XP_005267748.1:n.892-43G>A
XM_011536796.2:c.784-43G>A XP_011535098.1:n.784-43G>A
XM_017021335.2:c.892-43G>A XP_016876824.1:n.892-43G>A
XM_017021337.2:c.892-43G>A XP_016876826.1:n.892-43G>A
XR_429316.4:n.1018-43G>A
NM_001080414.4:c.892-43G>A MANE Select NP_001073883.2:n.892-43G>A