Canonical Allele Identifier: CA390608567
Gene: CCDC88C HGNC NCBI

Linked Data

dbSNP Id: rs764386003

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.91272820C>G , CM000676.2:g.91272820C>G GRCh38
NC_000014.8:g.91739164C>G , CM000676.1:g.91739164C>G GRCh37
NC_000014.7:g.90808917C>G NCBI36
NG_033118.1:g.150025G>C
NG_033118.2:g.150025G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000389857.11:c.5892G>C MANE Select ENSP00000374507.6:p.Glu1964Asp
ENST00000331194.8:c.1326G>C ENSP00000330332.8:p.Glu442Asp
ENST00000389857.10:c.5892G>C ENSP00000374507.6:p.Glu1964Asp
ENST00000556726.5:c.2120G>C
NM_001080414.3:c.5892G>C NP_001073883.2:p.Glu1964Asp
XM_011536796.1:c.5784G>C XP_011535098.1:p.Glu1928Asp
XM_011536796.2:c.5784G>C XP_011535098.1:p.Glu1928Asp
XM_017021336.1:c.2973G>C XP_016876825.1:p.Glu991Asp
NM_001080414.4:c.5892G>C MANE Select NP_001073883.2:p.Glu1964Asp