Canonical Allele Identifier: CA390607960
Gene: CCDC88C HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.91272650A>C , CM000676.2:g.91272650A>C GRCh38
NC_000014.8:g.91738994A>C , CM000676.1:g.91738994A>C GRCh37
NC_000014.7:g.90808747A>C NCBI36
NG_033118.1:g.150195T>G
NG_033118.2:g.150195T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000389857.11:c.6062T>G MANE Select ENSP00000374507.6:p.Val2021Gly
ENST00000331194.8:c.1496T>G ENSP00000330332.8:p.Val499Gly
ENST00000389857.10:c.6062T>G ENSP00000374507.6:p.Val2021Gly
ENST00000556726.5:c.2290T>G
NM_001080414.3:c.6062T>G NP_001073883.2:p.Val2021Gly
XM_011536796.1:c.5954T>G XP_011535098.1:p.Val1985Gly
XM_011536796.2:c.5954T>G XP_011535098.1:p.Val1985Gly
XM_017021336.1:c.3143T>G XP_016876825.1:p.Val1048Gly
NM_001080414.4:c.6062T>G MANE Select NP_001073883.2:p.Val2021Gly