Canonical Allele Identifier: CA487828552
Gene: CCDC88C HGNC NCBI

Linked Data

MyVariant Identifiers: chr14:g.91739077G>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.91272733G>C , CM000676.2:g.91272733G>C GRCh38
NC_000014.8:g.91739077G>C , CM000676.1:g.91739077G>C GRCh37
NC_000014.7:g.90808830G>C NCBI36
NG_033118.1:g.150112C>G
NG_033118.2:g.150112C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000389857.11:c.5979C>G MANE Select ENSP00000374507.6:p.Gly1993=
ENST00000331194.8:c.1413C>G ENSP00000330332.8:p.Gly471=
ENST00000389857.10:c.5979C>G ENSP00000374507.6:p.Gly1993=
ENST00000556726.5:c.2207C>G
NM_001080414.3:c.5979C>G NP_001073883.2:p.Gly1993=
XM_011536796.1:c.5871C>G XP_011535098.1:p.Gly1957=
XM_011536796.2:c.5871C>G XP_011535098.1:p.Gly1957=
XM_017021336.1:c.3060C>G XP_016876825.1:p.Gly1020=
NM_001080414.4:c.5979C>G MANE Select NP_001073883.2:p.Gly1993=
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