Canonical Allele Identifier: CA487829376
Gene: CCDC88C HGNC NCBI

Linked Data

MyVariant Identifiers: chr14:g.91739947G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.91273603G>C , CM000676.2:g.91273603G>C GRCh38
NC_000014.8:g.91739947G>C , CM000676.1:g.91739947G>C GRCh37
NC_000014.7:g.90809700G>C NCBI36
NG_033118.1:g.149242C>G
NG_033118.2:g.149242C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000389857.11:c.5109C>G MANE Select ENSP00000374507.6:p.Ala1703=
ENST00000331194.8:c.681C>G ENSP00000330332.8:p.Ala227=
ENST00000334448.5:n.921C>G
ENST00000389857.10:c.5109C>G ENSP00000374507.6:p.Ala1703=
ENST00000556726.5:c.1337C>G
NM_001080414.3:c.5109C>G NP_001073883.2:p.Ala1703=
XM_011536796.1:c.5001C>G XP_011535098.1:p.Ala1667=
XR_429316.2:n.5384C>G
XM_011536796.2:c.5001C>G XP_011535098.1:p.Ala1667=
XM_017021336.1:c.2190C>G XP_016876825.1:p.Ala730=
XR_429316.4:n.5382C>G
NM_001080414.4:c.5109C>G MANE Select NP_001073883.2:p.Ala1703=