Canonical Allele Identifier: CA390608422
Gene: CCDC88C HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.91272795A>G , CM000676.2:g.91272795A>G GRCh38
NC_000014.8:g.91739139A>G , CM000676.1:g.91739139A>G GRCh37
NC_000014.7:g.90808892A>G NCBI36
NG_033118.1:g.150050T>C
NG_033118.2:g.150050T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000389857.11:c.5917T>C MANE Select ENSP00000374507.6:p.Cys1973Arg
ENST00000331194.8:c.1351T>C ENSP00000330332.8:p.Cys451Arg
ENST00000389857.10:c.5917T>C ENSP00000374507.6:p.Cys1973Arg
ENST00000556726.5:c.2145T>C
NM_001080414.3:c.5917T>C NP_001073883.2:p.Cys1973Arg
XM_011536796.1:c.5809T>C XP_011535098.1:p.Cys1937Arg
XM_011536796.2:c.5809T>C XP_011535098.1:p.Cys1937Arg
XM_017021336.1:c.2998T>C XP_016876825.1:p.Cys1000Arg
NM_001080414.4:c.5917T>C MANE Select NP_001073883.2:p.Cys1973Arg