Canonical Allele Identifier: CA390617987
Gene: CCDC88C HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.91297312T>G , CM000676.2:g.91297312T>G GRCh38
NC_000014.8:g.91763656T>G , CM000676.1:g.91763656T>G GRCh37
NC_000014.7:g.90833409T>G NCBI36
NG_033118.1:g.125533A>C
NG_033118.2:g.125533A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000389857.11:c.3959A>C MANE Select ENSP00000374507.6:p.His1320Pro
ENST00000389857.10:c.3959A>C ENSP00000374507.6:p.His1320Pro
NM_001080414.3:c.3959A>C NP_001073883.2:p.His1320Pro
XM_005267691.3:c.3959A>C XP_005267748.1:p.His1320Pro
XM_011536796.1:c.3851A>C XP_011535098.1:p.His1284Pro
XR_429316.2:n.4087A>C
XR_943459.1:n.4087A>C
XM_005267691.5:c.3959A>C XP_005267748.1:p.His1320Pro
XM_011536796.2:c.3851A>C XP_011535098.1:p.His1284Pro
XM_017021335.2:c.3959A>C XP_016876824.1:p.His1320Pro
XM_017021336.1:c.1040A>C XP_016876825.1:p.His347Pro
XR_429316.4:n.4085A>C
NM_001080414.4:c.3959A>C MANE Select NP_001073883.2:p.His1320Pro