Canonical Allele Identifier: CA118944719
Gene: CCNO HGNC NCBI

Linked Data

dbSNP Id: rs989003320
gnomAD v2: 5-54528839-T-G
gnomAD v3: 5-55233011-T-G
gnomAD v4: 5-55233011-T-G
MyVariant Identifiers: chr5:g.54528839T>G (hg19) chr5:g.55233011T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.55233011T>G , CM000667.2:g.55233011T>G GRCh38
NC_000005.9:g.54528839T>G , CM000667.1:g.54528839T>G GRCh37
NC_000005.8:g.54564596T>G NCBI36
NG_034201.1:g.5707A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000282572.5:c.381+132A>C MANE Select ENSP00000282572.4:n.381+132A>C
ENST00000282572.4:c.381+132A>C ENSP00000282572.4:n.381+132A>C
ENST00000501463.2:c.*117A>C ENSP00000422485.1:n.*117A>C
NM_021147.4:c.381+132A>C NP_066970.3:n.381+132A>C
NR_125346.1:n.707A>C
NR_125347.1:n.580+127A>C
NM_021147.5:c.381+132A>C MANE Select NP_066970.3:n.381+132A>C
NR_125346.2:n.598A>C
NR_125347.2:n.471+127A>C
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