Canonical Allele Identifier: CA265578239

Gene: CCDC88C

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91320992T>C , CM000676.2:g.91320992T>C	GRCh38
NC_000014.8:g.91787336T>C , CM000676.1:g.91787336T>C	GRCh37
NC_000014.7:g.90857089T>C	NCBI36
NG_033118.1:g.101853A>G
NG_033118.2:g.101853A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001080414.4:c.1527+128A>G MANE Select	NP_001073883.2:n.1527+128A>G
ENST00000389857.11:c.1527+128A>G MANE Select	ENSP00000374507.6:n.1527+128A>G
NM_001080414.3:c.1527+128A>G	NP_001073883.2:n.1527+128A>G
ENST00000389857.10:c.1527+128A>G	ENSP00000374507.6:n.1527+128A>G
XM_005267691.3:c.1527+128A>G	XP_005267748.1:n.1527+128A>G
XM_005267691.5:c.1527+128A>G	XP_005267748.1:n.1527+128A>G
XM_011536796.1:c.1419+128A>G	XP_011535098.1:n.1419+128A>G
XM_011536796.2:c.1419+128A>G	XP_011535098.1:n.1419+128A>G
XM_017021335.2:c.1527+128A>G	XP_016876824.1:n.1527+128A>G
XM_017021337.2:c.1527+128A>G	XP_016876826.1:n.1527+128A>G
XR_429316.2:n.1655+128A>G
XR_429316.4:n.1653+128A>G
XR_943459.1:n.1655+128A>G