Canonical Allele Identifier: CA390629413

Gene: CCDC88C

Linked Data

• MyVariant Identifiers: chr14:g.91779463T>A (hg19) ; chr14:g.91313119T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91313119T>A , CM000676.2:g.91313119T>A	GRCh38
NC_000014.8:g.91779463T>A , CM000676.1:g.91779463T>A	GRCh37
NC_000014.7:g.90849216T>A	NCBI36
NG_033118.1:g.109726A>T
NG_033118.2:g.109726A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389857.11:c.2697A>T MANE Select	ENSP00000374507.6:p.Gln899His
ENST00000389857.10:c.2697A>T	ENSP00000374507.6:p.Gln899His
NM_001080414.3:c.2697A>T	NP_001073883.2:p.Gln899His
XM_005267691.3:c.2697A>T	XP_005267748.1:p.Gln899His
XM_011536796.1:c.2589A>T	XP_011535098.1:p.Gln863His
XR_429316.2:n.2825A>T
XR_943459.1:n.2825A>T
XM_005267691.5:c.2697A>T	XP_005267748.1:p.Gln899His
XM_011536796.2:c.2589A>T	XP_011535098.1:p.Gln863His
XM_017021335.2:c.2697A>T	XP_016876824.1:p.Gln899His
XM_017021336.1:c.-95A>T	XP_016876825.1:n.-95A>T
XM_017021337.2:c.2697A>T	XP_016876826.1:p.Gln899His
XR_429316.4:n.2823A>T
NM_001080414.4:c.2697A>T MANE Select	NP_001073883.2:p.Gln899His