Canonical Allele Identifier: CA265570300

Gene: CCDC88C

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91313823C>T , CM000676.2:g.91313823C>T	GRCh38
NC_000014.8:g.91780167C>T , CM000676.1:g.91780167C>T	GRCh37
NC_000014.7:g.90849920C>T	NCBI36
NG_033118.1:g.109022G>A
NG_033118.2:g.109022G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001080414.4:c.1993G>A MANE Select	NP_001073883.2:p.Glu665Lys
ENST00000389857.11:c.1993G>A MANE Select	ENSP00000374507.6:p.Glu665Lys
NM_001080414.3:c.1993G>A	NP_001073883.2:p.Glu665Lys
ENST00000389857.10:c.1993G>A	ENSP00000374507.6:p.Glu665Lys
XM_005267691.3:c.1993G>A	XP_005267748.1:p.Glu665Lys
XM_005267691.5:c.1993G>A	XP_005267748.1:p.Glu665Lys
XM_011536796.1:c.1885G>A	XP_011535098.1:p.Glu629Lys
XM_011536796.2:c.1885G>A	XP_011535098.1:p.Glu629Lys
XM_017021335.2:c.1993G>A	XP_016876824.1:p.Glu665Lys
XM_017021337.2:c.1993G>A	XP_016876826.1:p.Glu665Lys
XR_429316.2:n.2121G>A
XR_429316.4:n.2119G>A
XR_943459.1:n.2121G>A