Canonical Allele Identifier: CA487828578
Gene: CCDC88C HGNC NCBI

Linked Data

MyVariant Identifiers: chr14:g.91739101A>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.91272757A>G , CM000676.2:g.91272757A>G GRCh38
NC_000014.8:g.91739101A>G , CM000676.1:g.91739101A>G GRCh37
NC_000014.7:g.90808854A>G NCBI36
NG_033118.1:g.150088T>C
NG_033118.2:g.150088T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000389857.11:c.5955T>C MANE Select ENSP00000374507.6:p.Ser1985=
ENST00000331194.8:c.1389T>C ENSP00000330332.8:p.Ser463=
ENST00000389857.10:c.5955T>C ENSP00000374507.6:p.Ser1985=
ENST00000556726.5:c.2183T>C
NM_001080414.3:c.5955T>C NP_001073883.2:p.Ser1985=
XM_011536796.1:c.5847T>C XP_011535098.1:p.Ser1949=
XM_011536796.2:c.5847T>C XP_011535098.1:p.Ser1949=
XM_017021336.1:c.3036T>C XP_016876825.1:p.Ser1012=
NM_001080414.4:c.5955T>C MANE Select NP_001073883.2:p.Ser1985=
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