Canonical Allele Identifier: CA390607987
Gene: CCDC88C HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.91272662T>A , CM000676.2:g.91272662T>A GRCh38
NC_000014.8:g.91739006T>A , CM000676.1:g.91739006T>A GRCh37
NC_000014.7:g.90808759T>A NCBI36
NG_033118.1:g.150183A>T
NG_033118.2:g.150183A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000389857.11:c.6050A>T MANE Select ENSP00000374507.6:p.Asp2017Val
ENST00000331194.8:c.1484A>T ENSP00000330332.8:p.Asp495Val
ENST00000389857.10:c.6050A>T ENSP00000374507.6:p.Asp2017Val
ENST00000556726.5:c.2278A>T
NM_001080414.3:c.6050A>T NP_001073883.2:p.Asp2017Val
XM_011536796.1:c.5942A>T XP_011535098.1:p.Asp1981Val
XM_011536796.2:c.5942A>T XP_011535098.1:p.Asp1981Val
XM_017021336.1:c.3131A>T XP_016876825.1:p.Asp1044Val
NM_001080414.4:c.6050A>T MANE Select NP_001073883.2:p.Asp2017Val