Canonical Allele Identifier: CA390610075
Gene: CCDC88C HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.91273394G>C , CM000676.2:g.91273394G>C GRCh38
NC_000014.8:g.91739738G>C , CM000676.1:g.91739738G>C GRCh37
NC_000014.7:g.90809491G>C NCBI36
NG_033118.1:g.149451C>G
NG_033118.2:g.149451C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000389857.11:c.5318C>G MANE Select ENSP00000374507.6:p.Pro1773Arg
ENST00000331194.8:c.890C>G ENSP00000330332.8:p.Pro297Arg
ENST00000389857.10:c.5318C>G ENSP00000374507.6:p.Pro1773Arg
ENST00000556726.5:c.1546C>G
NM_001080414.3:c.5318C>G NP_001073883.2:p.Pro1773Arg
XM_011536796.1:c.5210C>G XP_011535098.1:p.Pro1737Arg
XM_011536796.2:c.5210C>G XP_011535098.1:p.Pro1737Arg
XM_017021336.1:c.2399C>G XP_016876825.1:p.Pro800Arg
NM_001080414.4:c.5318C>G MANE Select NP_001073883.2:p.Pro1773Arg