Canonical Allele Identifier: CA2802580907
Gene: CCDC88C HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.91272415A>G , CM000676.2:g.91272415A>G GRCh38
NC_000014.8:g.91738759A>G , CM000676.1:g.91738759A>G GRCh37
NC_000014.7:g.90808512A>G NCBI36
NG_033118.1:g.150430T>C
NG_033118.2:g.150430T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000389857.11:c.*210T>C MANE Select ENSP00000374507.6:n.*210T>C
ENST00000331194.8:c.*210T>C ENSP00000330332.8:n.*210T>C
ENST00000389857.10:c.*210T>C ENSP00000374507.6:n.*210T>C
ENST00000556726.5:c.2525T>C
NM_001080414.3:c.*210T>C NP_001073883.2:n.*210T>C
XM_011536796.1:c.*210T>C XP_011535098.1:n.*210T>C
XM_011536796.2:c.*210T>C XP_011535098.1:n.*210T>C
XM_017021336.1:c.*210T>C XP_016876825.1:n.*210T>C
NM_001080414.4:c.*210T>C MANE Select NP_001073883.2:n.*210T>C
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