Canonical Allele Identifier: CA7308708

Gene: CCDC88C

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91273503C>T , CM000676.2:g.91273503C>T	GRCh38
NC_000014.8:g.91739847C>T , CM000676.1:g.91739847C>T	GRCh37
NC_000014.7:g.90809600C>T	NCBI36
NG_033118.1:g.149342G>A
NG_033118.2:g.149342G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001080414.4:c.5209G>A MANE Select	NP_001073883.2:p.Ala1737Thr
ENST00000389857.11:c.5209G>A MANE Select	ENSP00000374507.6:p.Ala1737Thr
NM_001080414.3:c.5209G>A	NP_001073883.2:p.Ala1737Thr
ENST00000331194.8:c.781G>A	ENSP00000330332.8:p.Ala261Thr
ENST00000334448.5:n.1021G>A
ENST00000389857.10:c.5209G>A	ENSP00000374507.6:p.Ala1737Thr
ENST00000556726.5:c.1437G>A
XM_011536796.1:c.5101G>A	XP_011535098.1:p.Ala1701Thr
XM_011536796.2:c.5101G>A	XP_011535098.1:p.Ala1701Thr
XM_017021336.1:c.2290G>A	XP_016876825.1:p.Ala764Thr
XR_429316.2:n.5484G>A
XR_429316.4:n.5482G>A