Canonical Allele Identifier: CA390611968
Gene: CCDC88C HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.91338156T>A , CM000676.2:g.91338156T>A GRCh38
NC_000014.8:g.91804500T>A , CM000676.1:g.91804500T>A GRCh37
NC_000014.7:g.90874253T>A NCBI36
NG_033118.1:g.84689A>T
NG_033118.2:g.84689A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000389857.11:c.899A>T MANE Select ENSP00000374507.6:p.Gln300Leu
ENST00000389857.10:c.899A>T ENSP00000374507.6:p.Gln300Leu
ENST00000554051.1:n.376A>T
NM_001080414.3:c.899A>T NP_001073883.2:p.Gln300Leu
XM_005267691.3:c.899A>T XP_005267748.1:p.Gln300Leu
XM_011536796.1:c.791A>T XP_011535098.1:p.Gln264Leu
XR_429316.2:n.1027A>T
XR_943459.1:n.1027A>T
XM_005267691.5:c.899A>T XP_005267748.1:p.Gln300Leu
XM_011536796.2:c.791A>T XP_011535098.1:p.Gln264Leu
XM_017021335.2:c.899A>T XP_016876824.1:p.Gln300Leu
XM_017021337.2:c.899A>T XP_016876826.1:p.Gln300Leu
XR_429316.4:n.1025A>T
NM_001080414.4:c.899A>T MANE Select NP_001073883.2:p.Gln300Leu