Canonical Allele Identifier: CA118944678

Gene: CCNO

Linked Data

• dbSNP Id: rs948469209
• gnomAD v4: 5-55232953-T-A
• MyVariant Identifiers: chr5:g.54528781T>A (hg19) ; chr5:g.55232953T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.55232953T>A , CM000667.2:g.55232953T>A	GRCh38
NC_000005.9:g.54528781T>A , CM000667.1:g.54528781T>A	GRCh37
NC_000005.8:g.54564538T>A	NCBI36
NG_034201.1:g.5765A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282572.5:c.381+190A>T MANE Select	ENSP00000282572.4:n.381+190A>T
ENST00000282572.4:c.381+190A>T	ENSP00000282572.4:n.381+190A>T
ENST00000501463.2:c.*175A>T	ENSP00000422485.1:n.*175A>T
NM_021147.4:c.381+190A>T	NP_066970.3:n.381+190A>T
NR_125346.1:n.765A>T
NR_125347.1:n.580+185A>T
NR_125348.1:n.39A>T
NM_021147.5:c.381+190A>T MANE Select	NP_066970.3:n.381+190A>T
NR_125346.2:n.656A>T
NR_125347.2:n.471+185A>T