Canonical Allele Identifier: CA2626131615

Gene: CCDC88C

Linked Data

• gnomAD v4: 14-91305746-T-A

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91305746T>A , CM000676.2:g.91305746T>A	GRCh38
NC_000014.8:g.91772090T>A , CM000676.1:g.91772090T>A	GRCh37
NC_000014.7:g.90841843T>A	NCBI36
NG_033118.1:g.117099A>T
NG_033118.2:g.117099A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389857.11:c.3357+19A>T MANE Select	ENSP00000374507.6:n.3357+19A>T
ENST00000389857.10:c.3357+19A>T	ENSP00000374507.6:n.3357+19A>T
NM_001080414.3:c.3357+19A>T	NP_001073883.2:n.3357+19A>T
XM_005267691.3:c.3357+19A>T	XP_005267748.1:n.3357+19A>T
XM_011536796.1:c.3249+19A>T	XP_011535098.1:n.3249+19A>T
XR_429316.2:n.3485+19A>T
XR_943459.1:n.3485+19A>T
XM_005267691.5:c.3357+19A>T	XP_005267748.1:n.3357+19A>T
XM_011536796.2:c.3249+19A>T	XP_011535098.1:n.3249+19A>T
XM_017021335.2:c.3357+19A>T	XP_016876824.1:n.3357+19A>T
XM_017021336.1:c.438+19A>T	XP_016876825.1:n.438+19A>T
XR_429316.4:n.3483+19A>T
NM_001080414.4:c.3357+19A>T MANE Select	NP_001073883.2:n.3357+19A>T