Canonical Allele Identifier: CA390610376
Gene: CCDC88C HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.91273446T>A , CM000676.2:g.91273446T>A GRCh38
NC_000014.8:g.91739790T>A , CM000676.1:g.91739790T>A GRCh37
NC_000014.7:g.90809543T>A NCBI36
NG_033118.1:g.149399A>T
NG_033118.2:g.149399A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000389857.11:c.5266A>T MANE Select ENSP00000374507.6:p.Arg1756Ter
ENST00000331194.8:c.838A>T ENSP00000330332.8:p.Arg280Ter
ENST00000389857.10:c.5266A>T ENSP00000374507.6:p.Arg1756Ter
ENST00000556726.5:c.1494A>T
NM_001080414.3:c.5266A>T NP_001073883.2:p.Arg1756Ter
XM_011536796.1:c.5158A>T XP_011535098.1:p.Arg1720Ter
XM_011536796.2:c.5158A>T XP_011535098.1:p.Arg1720Ter
XM_017021336.1:c.2347A>T XP_016876825.1:p.Arg783Ter
NM_001080414.4:c.5266A>T MANE Select NP_001073883.2:p.Arg1756Ter