Canonical Allele Identifier: CA390610745
Gene: CCDC88C HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.91273548C>A , CM000676.2:g.91273548C>A GRCh38
NC_000014.8:g.91739892C>A , CM000676.1:g.91739892C>A GRCh37
NC_000014.7:g.90809645C>A NCBI36
NG_033118.1:g.149297G>T
NG_033118.2:g.149297G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000389857.11:c.5164G>T MANE Select ENSP00000374507.6:p.Ala1722Ser
ENST00000331194.8:c.736G>T ENSP00000330332.8:p.Ala246Ser
ENST00000334448.5:n.976G>T
ENST00000389857.10:c.5164G>T ENSP00000374507.6:p.Ala1722Ser
ENST00000556726.5:c.1392G>T
NM_001080414.3:c.5164G>T NP_001073883.2:p.Ala1722Ser
XM_011536796.1:c.5056G>T XP_011535098.1:p.Ala1686Ser
XR_429316.2:n.5439G>T
XM_011536796.2:c.5056G>T XP_011535098.1:p.Ala1686Ser
XM_017021336.1:c.2245G>T XP_016876825.1:p.Ala749Ser
XR_429316.4:n.5437G>T
NM_001080414.4:c.5164G>T MANE Select NP_001073883.2:p.Ala1722Ser