Canonical Allele Identifier: CA390608045
Gene: CCDC88C HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.91272692C>T , CM000676.2:g.91272692C>T GRCh38
NC_000014.8:g.91739036C>T , CM000676.1:g.91739036C>T GRCh37
NC_000014.7:g.90808789C>T NCBI36
NG_033118.1:g.150153G>A
NG_033118.2:g.150153G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000389857.11:c.6020G>A MANE Select ENSP00000374507.6:p.Ser2007Asn
ENST00000331194.8:c.1454G>A ENSP00000330332.8:p.Ser485Asn
ENST00000389857.10:c.6020G>A ENSP00000374507.6:p.Ser2007Asn
ENST00000556726.5:c.2248G>A
NM_001080414.3:c.6020G>A NP_001073883.2:p.Ser2007Asn
XM_011536796.1:c.5912G>A XP_011535098.1:p.Ser1971Asn
XM_011536796.2:c.5912G>A XP_011535098.1:p.Ser1971Asn
XM_017021336.1:c.3101G>A XP_016876825.1:p.Ser1034Asn
NM_001080414.4:c.6020G>A MANE Select NP_001073883.2:p.Ser2007Asn