Canonical Allele Identifier: CA359726105
Gene: CCNO HGNC NCBI

Linked Data

dbSNP Id: rs1329819623
gnomAD v2: 5-54529294-C-G
MyVariant Identifiers: chr5:g.54529294C>G (hg19) chr5:g.55233466C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.55233466C>G , CM000667.2:g.55233466C>G GRCh38
NC_000005.9:g.54529294C>G , CM000667.1:g.54529294C>G GRCh37
NC_000005.8:g.54565051C>G NCBI36
NG_034201.1:g.5252G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000282572.5:c.58G>C MANE Select ENSP00000282572.4:p.Asp20His
ENST00000282572.4:c.58G>C ENSP00000282572.4:p.Asp20His
ENST00000501463.2:c.58G>C ENSP00000422485.1:p.Asp20His
NM_021147.4:c.58G>C NP_066970.3:p.Asp20His
NR_125346.1:n.252G>C
NR_125347.1:n.252G>C
NM_021147.5:c.58G>C MANE Select NP_066970.3:p.Asp20His
NR_125346.2:n.143G>C
NR_125347.2:n.143G>C
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