Canonical Allele Identifier: CA118944641
Gene: CCNO HGNC NCBI

Linked Data

dbSNP Id: rs1032646088
gnomAD v2: 5-54528757-A-G
gnomAD v3: 5-55232929-A-G
gnomAD v4: 5-55232929-A-G
MyVariant Identifiers: chr5:g.54528757A>G (hg19) chr5:g.55232929A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.55232929A>G , CM000667.2:g.55232929A>G GRCh38
NC_000005.9:g.54528757A>G , CM000667.1:g.54528757A>G GRCh37
NC_000005.8:g.54564514A>G NCBI36
NG_034201.1:g.5789T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000282572.5:c.381+214T>C MANE Select ENSP00000282572.4:n.381+214T>C
ENST00000282572.4:c.381+214T>C ENSP00000282572.4:n.381+214T>C
ENST00000501463.2:c.*199T>C ENSP00000422485.1:n.*199T>C
NM_021147.4:c.381+214T>C NP_066970.3:n.381+214T>C
NR_125346.1:n.789T>C
NR_125347.1:n.580+209T>C
NR_125348.1:n.63T>C
NM_021147.5:c.381+214T>C MANE Select NP_066970.3:n.381+214T>C
NR_125346.2:n.680T>C
NR_125347.2:n.471+209T>C
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