Canonical Allele Identifier: CA13946534
Gene: CCDC88C HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.91374725A>G , CM000676.2:g.91374725A>G GRCh38
NC_000014.8:g.91841069A>G , CM000676.1:g.91841069A>G GRCh37
NC_000014.7:g.90910822A>G NCBI36
NG_033118.1:g.48120T>C
NG_033118.2:g.48120T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000389857.11:c.271-15014T>C MANE Select ENSP00000374507.6:n.271-15014T>C
ENST00000389857.10:c.271-15014T>C ENSP00000374507.6:n.271-15014T>C
ENST00000553437.1:n.101-15014T>C
ENST00000554872.5:n.211-15014T>C
NM_001080414.3:c.271-15014T>C NP_001073883.2:n.271-15014T>C
XM_005267691.3:c.271-15014T>C XP_005267748.1:n.271-15014T>C
XM_011536796.1:c.163-15014T>C XP_011535098.1:n.163-15014T>C
XR_429316.2:n.399-15014T>C
XR_943459.1:n.399-15014T>C
XM_005267691.5:c.271-15014T>C XP_005267748.1:n.271-15014T>C
XM_011536796.2:c.163-15014T>C XP_011535098.1:n.163-15014T>C
XM_017021335.2:c.271-15014T>C XP_016876824.1:n.271-15014T>C
XM_017021337.2:c.271-15014T>C XP_016876826.1:n.271-15014T>C
XR_429316.4:n.397-15014T>C
NM_001080414.4:c.271-15014T>C MANE Select NP_001073883.2:n.271-15014T>C
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