Canonical Allele Identifier: CA390612869
Gene: CCDC88C HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.91279236A>C , CM000676.2:g.91279236A>C GRCh38
NC_000014.8:g.91745580A>C , CM000676.1:g.91745580A>C GRCh37
NC_000014.7:g.90815333A>C NCBI36
NG_033118.1:g.143609T>G
NG_033118.2:g.143609T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000389857.11:c.4768+2T>G MANE Select ENSP00000374507.6:n.4768+2T>G
ENST00000331194.8:c.340+2T>G ENSP00000330332.8:n.340+2T>G
ENST00000334448.5:n.580+2T>G
ENST00000389857.10:c.4768+2T>G ENSP00000374507.6:n.4768+2T>G
ENST00000556726.5:c.996+2T>G
ENST00000557455.1:n.740+2T>G
NM_001080414.3:c.4768+2T>G NP_001073883.2:n.4768+2T>G
XM_011536796.1:c.4660+2T>G XP_011535098.1:n.4660+2T>G
XR_429316.2:n.5043+2T>G
XM_011536796.2:c.4660+2T>G XP_011535098.1:n.4660+2T>G
XM_017021336.1:c.1849+2T>G XP_016876825.1:n.1849+2T>G
XR_429316.4:n.5041+2T>G
NM_001080414.4:c.4768+2T>G MANE Select NP_001073883.2:n.4768+2T>G