Canonical Allele Identifier: CA390610811
Gene: CCDC88C HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.91273580C>G , CM000676.2:g.91273580C>G GRCh38
NC_000014.8:g.91739924C>G , CM000676.1:g.91739924C>G GRCh37
NC_000014.7:g.90809677C>G NCBI36
NG_033118.1:g.149265G>C
NG_033118.2:g.149265G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000389857.11:c.5132G>C MANE Select ENSP00000374507.6:p.Gly1711Ala
ENST00000331194.8:c.704G>C ENSP00000330332.8:p.Gly235Ala
ENST00000334448.5:n.944G>C
ENST00000389857.10:c.5132G>C ENSP00000374507.6:p.Gly1711Ala
ENST00000556726.5:c.1360G>C
NM_001080414.3:c.5132G>C NP_001073883.2:p.Gly1711Ala
XM_011536796.1:c.5024G>C XP_011535098.1:p.Gly1675Ala
XR_429316.2:n.5407G>C
XM_011536796.2:c.5024G>C XP_011535098.1:p.Gly1675Ala
XM_017021336.1:c.2213G>C XP_016876825.1:p.Gly738Ala
XR_429316.4:n.5405G>C
NM_001080414.4:c.5132G>C MANE Select NP_001073883.2:p.Gly1711Ala