Canonical Allele Identifier: CA390610478
Gene: CCDC88C HGNC NCBI

Linked Data

MyVariant Identifiers: chr14:g.91739808A>C (hg19) chr14:g.91273464A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.91273464A>C , CM000676.2:g.91273464A>C GRCh38
NC_000014.8:g.91739808A>C , CM000676.1:g.91739808A>C GRCh37
NC_000014.7:g.90809561A>C NCBI36
NG_033118.1:g.149381T>G
NG_033118.2:g.149381T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000389857.11:c.5248T>G MANE Select ENSP00000374507.6:p.Tyr1750Asp
ENST00000331194.8:c.820T>G ENSP00000330332.8:p.Tyr274Asp
ENST00000389857.10:c.5248T>G ENSP00000374507.6:p.Tyr1750Asp
ENST00000556726.5:c.1476T>G
NM_001080414.3:c.5248T>G NP_001073883.2:p.Tyr1750Asp
XM_011536796.1:c.5140T>G XP_011535098.1:p.Tyr1714Asp
XM_011536796.2:c.5140T>G XP_011535098.1:p.Tyr1714Asp
XM_017021336.1:c.2329T>G XP_016876825.1:p.Tyr777Asp
NM_001080414.4:c.5248T>G MANE Select NP_001073883.2:p.Tyr1750Asp
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