Canonical Allele Identifier: CA390612397

Gene: CCDC88C

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91278095C>T , CM000676.2:g.91278095C>T	GRCh38
NC_000014.8:g.91744439C>T , CM000676.1:g.91744439C>T	GRCh37
NC_000014.7:g.90814192C>T	NCBI36
NG_033118.1:g.144750G>A
NG_033118.2:g.144750G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001080414.4:c.4885G>A MANE Select	NP_001073883.2:p.Gly1629Ser
ENST00000389857.11:c.4885G>A MANE Select	ENSP00000374507.6:p.Gly1629Ser
NM_001080414.3:c.4885G>A	NP_001073883.2:p.Gly1629Ser
ENST00000331194.8:c.457G>A	ENSP00000330332.8:p.Gly153Ser
ENST00000334448.5:n.697G>A
ENST00000389857.10:c.4885G>A	ENSP00000374507.6:p.Gly1629Ser
ENST00000556726.5:c.1113G>A
XM_011536796.1:c.4777G>A	XP_011535098.1:p.Gly1593Ser
XM_011536796.2:c.4777G>A	XP_011535098.1:p.Gly1593Ser
XM_017021336.1:c.1966G>A	XP_016876825.1:p.Gly656Ser
XR_429316.2:n.5160G>A
XR_429316.4:n.5158G>A