Canonical Allele Identifier: CA2838268146

Gene: CCDC88C

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91343576C>A , CM000676.2:g.91343576C>A	GRCh38
NC_000014.8:g.91809920C>A , CM000676.1:g.91809920C>A	GRCh37
NC_000014.7:g.90879673C>A	NCBI36
NG_033118.1:g.79269G>T
NG_033118.2:g.79269G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389857.11:c.399+23G>T MANE Select	ENSP00000374507.6:n.399+23G>T
ENST00000389857.10:c.399+23G>T	ENSP00000374507.6:n.399+23G>T
ENST00000553437.1:n.229+23G>T
ENST00000554872.5:n.339+23G>T
NM_001080414.3:c.399+23G>T	NP_001073883.2:n.399+23G>T
XM_005267691.3:c.399+23G>T	XP_005267748.1:n.399+23G>T
XM_011536796.1:c.291+23G>T	XP_011535098.1:n.291+23G>T
XR_429316.2:n.527+23G>T
XR_943459.1:n.527+23G>T
XM_005267691.5:c.399+23G>T	XP_005267748.1:n.399+23G>T
XM_011536796.2:c.291+23G>T	XP_011535098.1:n.291+23G>T
XM_017021335.2:c.399+23G>T	XP_016876824.1:n.399+23G>T
XM_017021337.2:c.399+23G>T	XP_016876826.1:n.399+23G>T
XR_429316.4:n.525+23G>T
NM_001080414.4:c.399+23G>T MANE Select	NP_001073883.2:n.399+23G>T