Canonical Allele Identifier: CA390614151

Gene: CCDC88C

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91283519T>G , CM000676.2:g.91283519T>G	GRCh38
NC_000014.8:g.91749863T>G , CM000676.1:g.91749863T>G	GRCh37
NC_000014.7:g.90819616T>G	NCBI36
NG_033118.1:g.139326A>C
NG_033118.2:g.139326A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001080414.4:c.4442-2A>C MANE Select	NP_001073883.2:n.4442-2A>C
ENST00000389857.11:c.4442-2A>C MANE Select	ENSP00000374507.6:n.4442-2A>C
NM_001080414.3:c.4442-2A>C	NP_001073883.2:n.4442-2A>C
ENST00000331194.8:c.14-2A>C	ENSP00000330332.8:n.14-2A>C
ENST00000334448.5:n.105A>C
ENST00000389857.10:c.4442-2A>C	ENSP00000374507.6:n.4442-2A>C
ENST00000556726.5:c.670-2A>C
XM_011536796.1:c.4334-2A>C	XP_011535098.1:n.4334-2A>C
XM_011536796.2:c.4334-2A>C	XP_011535098.1:n.4334-2A>C
XM_017021335.2:c.4442-2A>C	XP_016876824.1:n.4442-2A>C
XM_017021336.1:c.1523-2A>C	XP_016876825.1:n.1523-2A>C
XR_429316.2:n.4570-2A>C
XR_429316.4:n.4568-2A>C
XR_943459.1:n.4570-2A>C