Canonical Allele Identifier: CA390608189
Gene: CCDC88C HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.91272752T>C , CM000676.2:g.91272752T>C GRCh38
NC_000014.8:g.91739096T>C , CM000676.1:g.91739096T>C GRCh37
NC_000014.7:g.90808849T>C NCBI36
NG_033118.1:g.150093A>G
NG_033118.2:g.150093A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000389857.11:c.5960A>G MANE Select ENSP00000374507.6:p.Asp1987Gly
ENST00000331194.8:c.1394A>G ENSP00000330332.8:p.Asp465Gly
ENST00000389857.10:c.5960A>G ENSP00000374507.6:p.Asp1987Gly
ENST00000556726.5:c.2188A>G
NM_001080414.3:c.5960A>G NP_001073883.2:p.Asp1987Gly
XM_011536796.1:c.5852A>G XP_011535098.1:p.Asp1951Gly
XM_011536796.2:c.5852A>G XP_011535098.1:p.Asp1951Gly
XM_017021336.1:c.3041A>G XP_016876825.1:p.Asp1014Gly
NM_001080414.4:c.5960A>G MANE Select NP_001073883.2:p.Asp1987Gly