Canonical Allele Identifier: CA390611729

Gene: CCDC88C

Linked Data

• MyVariant Identifiers: chr14:g.91804380T>A (hg19) ; chr14:g.91338036T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91338036T>A , CM000676.2:g.91338036T>A	GRCh38
NC_000014.8:g.91804380T>A , CM000676.1:g.91804380T>A	GRCh37
NC_000014.7:g.90874133T>A	NCBI36
NG_033118.1:g.84809A>T
NG_033118.2:g.84809A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389857.11:c.1019A>T MANE Select	ENSP00000374507.6:p.His340Leu
ENST00000389857.10:c.1019A>T	ENSP00000374507.6:p.His340Leu
NM_001080414.3:c.1019A>T	NP_001073883.2:p.His340Leu
XM_005267691.3:c.1019A>T	XP_005267748.1:p.His340Leu
XM_011536796.1:c.911A>T	XP_011535098.1:p.His304Leu
XR_429316.2:n.1147A>T
XR_943459.1:n.1147A>T
XM_005267691.5:c.1019A>T	XP_005267748.1:p.His340Leu
XM_011536796.2:c.911A>T	XP_011535098.1:p.His304Leu
XM_017021335.2:c.1019A>T	XP_016876824.1:p.His340Leu
XM_017021337.2:c.1019A>T	XP_016876826.1:p.His340Leu
XR_429316.4:n.1145A>T
NM_001080414.4:c.1019A>T MANE Select	NP_001073883.2:p.His340Leu