Canonical Allele Identifier: CA1872547665
Community Standard Title: NM_133464.5(ZNF483):c.722-2352C=
Gene: ZNF483 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.111539305C= , CM000671.2:g.111539305C= GRCh38
NC_000009.11:g.114301585C= , CM000671.1:g.114301585C= GRCh37
NC_000009.10:g.113341406C= NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_133464.5:c.722-2352C= MANE Select NP_597721.2:n.722-2352C=
ENST00000309235.6:c.722-2352C= MANE Select ENSP00000311679.5:n.722-2352C=
NM_001007169.3:c.721+4952C= NP_001007170.1:n.721+4952C=
NM_001007169.4:c.721+4952C= NP_001007170.1:n.721+4952C=
NM_001007169.5:c.721+4952C= NP_001007170.1:n.721+4952C=
NM_001007169.6:c.721+4952C= NP_001007170.1:n.721+4952C=
NM_133464.3:c.722-2352C= NP_597721.2:n.722-2352C=
NM_133464.4:c.722-2352C= NP_597721.2:n.722-2352C=
ENST00000309235.5:c.722-2352C= ENSP00000311679.5:n.722-2352C=
ENST00000355824.7:c.722-141C= ENSP00000438048.1:n.722-141C=
ENST00000358151.8:c.721+4952C= ENSP00000350871.4:n.721+4952C=
XM_011518299.1:c.722-2352C= XP_011516601.1:n.722-2352C=
XM_011518300.1:c.722-2352C= XP_011516602.1:n.722-2352C=
XM_011518300.2:c.722-2352C= XP_011516602.1:n.722-2352C=
XM_011518301.1:c.254-2352C= XP_011516603.1:n.254-2352C=
XM_017014337.1:c.722-2352C= XP_016869826.1:n.722-2352C=
XM_017014338.1:c.722-2352C= XP_016869827.1:n.722-2352C=
XM_017014339.1:c.722-141C= XP_016869828.1:n.722-141C=