Canonical Allele Identifier: CA390608052
Gene: CCDC88C HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.91272695T>C , CM000676.2:g.91272695T>C GRCh38
NC_000014.8:g.91739039T>C , CM000676.1:g.91739039T>C GRCh37
NC_000014.7:g.90808792T>C NCBI36
NG_033118.1:g.150150A>G
NG_033118.2:g.150150A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000389857.11:c.6017A>G MANE Select ENSP00000374507.6:p.Lys2006Arg
ENST00000331194.8:c.1451A>G ENSP00000330332.8:p.Lys484Arg
ENST00000389857.10:c.6017A>G ENSP00000374507.6:p.Lys2006Arg
ENST00000556726.5:c.2245A>G
NM_001080414.3:c.6017A>G NP_001073883.2:p.Lys2006Arg
XM_011536796.1:c.5909A>G XP_011535098.1:p.Lys1970Arg
XM_011536796.2:c.5909A>G XP_011535098.1:p.Lys1970Arg
XM_017021336.1:c.3098A>G XP_016876825.1:p.Lys1033Arg
NM_001080414.4:c.6017A>G MANE Select NP_001073883.2:p.Lys2006Arg