Canonical Allele Identifier: CA390630561

Gene: CCDC88C

Linked Data

• gnomAD v4: 14-91313521-G-T
• MyVariant Identifiers: chr14:g.91779865G>T (hg19) ; chr14:g.91313521G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91313521G>T , CM000676.2:g.91313521G>T	GRCh38
NC_000014.8:g.91779865G>T , CM000676.1:g.91779865G>T	GRCh37
NC_000014.7:g.90849618G>T	NCBI36
NG_033118.1:g.109324C>A
NG_033118.2:g.109324C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389857.11:c.2295C>A MANE Select	ENSP00000374507.6:p.Ser765Arg
ENST00000389857.10:c.2295C>A	ENSP00000374507.6:p.Ser765Arg
NM_001080414.3:c.2295C>A	NP_001073883.2:p.Ser765Arg
XM_005267691.3:c.2295C>A	XP_005267748.1:p.Ser765Arg
XM_011536796.1:c.2187C>A	XP_011535098.1:p.Ser729Arg
XR_429316.2:n.2423C>A
XR_943459.1:n.2423C>A
XM_005267691.5:c.2295C>A	XP_005267748.1:p.Ser765Arg
XM_011536796.2:c.2187C>A	XP_011535098.1:p.Ser729Arg
XM_017021335.2:c.2295C>A	XP_016876824.1:p.Ser765Arg
XM_017021337.2:c.2295C>A	XP_016876826.1:p.Ser765Arg
XR_429316.4:n.2421C>A
NM_001080414.4:c.2295C>A MANE Select	NP_001073883.2:p.Ser765Arg