Canonical Allele Identifier: CA359724842
Gene: CCNO HGNC NCBI

Linked Data

dbSNP Id: rs1240616819
gnomAD v2: 5-54529128-G-C
gnomAD v3: 5-55233300-G-C
gnomAD v4: 5-55233300-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.55233300G>C , CM000667.2:g.55233300G>C GRCh38
NC_000005.9:g.54529128G>C , CM000667.1:g.54529128G>C GRCh37
NC_000005.8:g.54564885G>C NCBI36
NG_034201.1:g.5418C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000282572.5:c.224C>G MANE Select ENSP00000282572.4:p.Ser75Cys
ENST00000282572.4:c.224C>G ENSP00000282572.4:p.Ser75Cys
ENST00000501463.2:c.224C>G ENSP00000422485.1:p.Ser75Cys
NM_021147.4:c.224C>G NP_066970.3:p.Ser75Cys
NR_125346.1:n.418C>G
NR_125347.1:n.418C>G
NM_021147.5:c.224C>G MANE Select NP_066970.3:p.Ser75Cys
NR_125346.2:n.309C>G
NR_125347.2:n.309C>G