Canonical Allele Identifier: CA390607946
Gene: CCDC88C HGNC NCBI

Linked Data

gnomAD v4: 14-91272644-T-C
MyVariant Identifiers: chr14:g.91738988T>C (hg19) chr14:g.91272644T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.91272644T>C , CM000676.2:g.91272644T>C GRCh38
NC_000014.8:g.91738988T>C , CM000676.1:g.91738988T>C GRCh37
NC_000014.7:g.90808741T>C NCBI36
NG_033118.1:g.150201A>G
NG_033118.2:g.150201A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000389857.11:c.6068A>G MANE Select ENSP00000374507.6:p.Tyr2023Cys
ENST00000331194.8:c.1502A>G ENSP00000330332.8:p.Tyr501Cys
ENST00000389857.10:c.6068A>G ENSP00000374507.6:p.Tyr2023Cys
ENST00000556726.5:c.2296A>G
NM_001080414.3:c.6068A>G NP_001073883.2:p.Tyr2023Cys
XM_011536796.1:c.5960A>G XP_011535098.1:p.Tyr1987Cys
XM_011536796.2:c.5960A>G XP_011535098.1:p.Tyr1987Cys
XM_017021336.1:c.3149A>G XP_016876825.1:p.Tyr1050Cys
NM_001080414.4:c.6068A>G MANE Select NP_001073883.2:p.Tyr2023Cys
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