Canonical Allele Identifier: CA7308730

Gene: CCDC88C

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91273600G>A , CM000676.2:g.91273600G>A	GRCh38
NC_000014.8:g.91739944G>A , CM000676.1:g.91739944G>A	GRCh37
NC_000014.7:g.90809697G>A	NCBI36
NG_033118.1:g.149245C>T
NG_033118.2:g.149245C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001080414.4:c.5112C>T MANE Select	NP_001073883.2:p.Ser1704=
ENST00000389857.11:c.5112C>T MANE Select	ENSP00000374507.6:p.Ser1704=
NM_001080414.3:c.5112C>T	NP_001073883.2:p.Ser1704=
ENST00000331194.8:c.684C>T	ENSP00000330332.8:p.Ser228=
ENST00000334448.5:n.924C>T
ENST00000389857.10:c.5112C>T	ENSP00000374507.6:p.Ser1704=
ENST00000556726.5:c.1340C>T
XM_011536796.1:c.5004C>T	XP_011535098.1:p.Ser1668=
XM_011536796.2:c.5004C>T	XP_011535098.1:p.Ser1668=
XM_017021336.1:c.2193C>T	XP_016876825.1:p.Ser731=
XR_429316.2:n.5387C>T
XR_429316.4:n.5385C>T