Canonical Allele Identifier: CA359721191
Gene: CCNO HGNC NCBI

Linked Data

dbSNP Id: rs368825448
gnomAD v2: 5-54527483-G-A
gnomAD v4: 5-55231655-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.55231655G>A , CM000667.2:g.55231655G>A GRCh38
NC_000005.9:g.54527483G>A , CM000667.1:g.54527483G>A GRCh37
NC_000005.8:g.54563240G>A NCBI36
NG_034201.1:g.7063C>T
NG_051620.1:g.661C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000282572.5:c.773C>T MANE Select ENSP00000282572.4:p.Ala258Val
ENST00000282572.4:c.773C>T ENSP00000282572.4:p.Ala258Val
ENST00000501463.2:c.*753C>T ENSP00000422485.1:n.*753C>T
NM_021147.4:c.773C>T NP_066970.3:p.Ala258Val
NR_125346.1:n.1343C>T
NR_125347.1:n.972C>T
NR_125348.1:n.837C>T
NM_021147.5:c.773C>T MANE Select NP_066970.3:p.Ala258Val
NR_125346.2:n.1234C>T
NR_125347.2:n.863C>T