Canonical Allele Identifier: CA390608066
Gene: CCDC88C HGNC NCBI

Linked Data

MyVariant Identifiers: chr14:g.91739047G>C (hg19) chr14:g.91272703G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.91272703G>C , CM000676.2:g.91272703G>C GRCh38
NC_000014.8:g.91739047G>C , CM000676.1:g.91739047G>C GRCh37
NC_000014.7:g.90808800G>C NCBI36
NG_033118.1:g.150142C>G
NG_033118.2:g.150142C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000389857.11:c.6009C>G MANE Select ENSP00000374507.6:p.Ser2003Arg
ENST00000331194.8:c.1443C>G ENSP00000330332.8:p.Ser481Arg
ENST00000389857.10:c.6009C>G ENSP00000374507.6:p.Ser2003Arg
ENST00000556726.5:c.2237C>G
NM_001080414.3:c.6009C>G NP_001073883.2:p.Ser2003Arg
XM_011536796.1:c.5901C>G XP_011535098.1:p.Ser1967Arg
XM_011536796.2:c.5901C>G XP_011535098.1:p.Ser1967Arg
XM_017021336.1:c.3090C>G XP_016876825.1:p.Ser1030Arg
NM_001080414.4:c.6009C>G MANE Select NP_001073883.2:p.Ser2003Arg
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