Canonical Allele Identifier: CA390607937
Gene: CCDC88C HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.91272641T>A , CM000676.2:g.91272641T>A GRCh38
NC_000014.8:g.91738985T>A , CM000676.1:g.91738985T>A GRCh37
NC_000014.7:g.90808738T>A NCBI36
NG_033118.1:g.150204A>T
NG_033118.2:g.150204A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000389857.11:c.6071A>T MANE Select ENSP00000374507.6:p.Glu2024Val
ENST00000331194.8:c.1505A>T ENSP00000330332.8:p.Glu502Val
ENST00000389857.10:c.6071A>T ENSP00000374507.6:p.Glu2024Val
ENST00000556726.5:c.2299A>T
NM_001080414.3:c.6071A>T NP_001073883.2:p.Glu2024Val
XM_011536796.1:c.5963A>T XP_011535098.1:p.Glu1988Val
XM_011536796.2:c.5963A>T XP_011535098.1:p.Glu1988Val
XM_017021336.1:c.3152A>T XP_016876825.1:p.Glu1051Val
NM_001080414.4:c.6071A>T MANE Select NP_001073883.2:p.Glu2024Val