Canonical Allele Identifier: CA16497038

Gene: CCDC88C

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91283251C>A , CM000676.2:g.91283251C>A	GRCh38
NC_000014.8:g.91749595C>A , CM000676.1:g.91749595C>A	GRCh37
NC_000014.7:g.90819348C>A	NCBI36
NG_033118.1:g.139594G>T
NG_033118.2:g.139594G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001080414.4:c.4630+78G>T MANE Select	NP_001073883.2:n.4630+78G>T
ENST00000389857.11:c.4630+78G>T MANE Select	ENSP00000374507.6:n.4630+78G>T
NM_001080414.3:c.4630+78G>T	NP_001073883.2:n.4630+78G>T
ENST00000331194.8:c.202+78G>T	ENSP00000330332.8:n.202+78G>T
ENST00000334448.5:n.295+78G>T
ENST00000389857.10:c.4630+78G>T	ENSP00000374507.6:n.4630+78G>T
ENST00000556726.5:c.858+78G>T
XM_011536796.1:c.4522+78G>T	XP_011535098.1:n.4522+78G>T
XM_011536796.2:c.4522+78G>T	XP_011535098.1:n.4522+78G>T
XM_017021335.2:c.4630+78G>T	XP_016876824.1:n.4630+78G>T
XM_017021336.1:c.1711+78G>T	XP_016876825.1:n.1711+78G>T
XR_429316.2:n.4758+78G>T
XR_429316.4:n.4756+78G>T
XR_943459.1:n.4758+78G>T