Canonical Allele Identifier: CA390610061
Gene: CCDC88C HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.91273391G>T , CM000676.2:g.91273391G>T GRCh38
NC_000014.8:g.91739735G>T , CM000676.1:g.91739735G>T GRCh37
NC_000014.7:g.90809488G>T NCBI36
NG_033118.1:g.149454C>A
NG_033118.2:g.149454C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000389857.11:c.5321C>A MANE Select ENSP00000374507.6:p.Pro1774His
ENST00000331194.8:c.893C>A ENSP00000330332.8:p.Pro298His
ENST00000389857.10:c.5321C>A ENSP00000374507.6:p.Pro1774His
ENST00000556726.5:c.1549C>A
NM_001080414.3:c.5321C>A NP_001073883.2:p.Pro1774His
XM_011536796.1:c.5213C>A XP_011535098.1:p.Pro1738His
XM_011536796.2:c.5213C>A XP_011535098.1:p.Pro1738His
XM_017021336.1:c.2402C>A XP_016876825.1:p.Pro801His
NM_001080414.4:c.5321C>A MANE Select NP_001073883.2:p.Pro1774His