Canonical Allele Identifier: CA2843223737
Gene: ZNF483 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.111531457G>A , CM000671.2:g.111531457G>A GRCh38
NC_000009.11:g.114293737G>A , CM000671.1:g.114293737G>A GRCh37
NC_000009.10:g.113333558G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000309235.6:c.501+494G>A MANE Select ENSP00000311679.5:n.501+494G>A
ENST00000309235.5:c.501+494G>A ENSP00000311679.5:n.501+494G>A
ENST00000355824.7:c.501+494G>A ENSP00000438048.1:n.501+494G>A
ENST00000358151.8:c.501+494G>A ENSP00000350871.4:n.501+494G>A
NM_001007169.3:c.501+494G>A NP_001007170.1:n.501+494G>A
NM_133464.3:c.501+494G>A NP_597721.2:n.501+494G>A
XM_011518299.1:c.501+494G>A XP_011516601.1:n.501+494G>A
XM_011518300.1:c.501+494G>A XP_011516602.1:n.501+494G>A
XM_011518301.1:c.33+494G>A XP_011516603.1:n.33+494G>A
NM_001007169.4:c.501+494G>A NP_001007170.1:n.501+494G>A
NM_133464.4:c.501+494G>A NP_597721.2:n.501+494G>A
XM_011518300.2:c.501+494G>A XP_011516602.1:n.501+494G>A
XM_017014337.1:c.501+494G>A XP_016869826.1:n.501+494G>A
XM_017014338.1:c.501+494G>A XP_016869827.1:n.501+494G>A
XM_017014339.1:c.501+494G>A XP_016869828.1:n.501+494G>A
NM_001007169.5:c.501+494G>A NP_001007170.1:n.501+494G>A
NM_133464.5:c.501+494G>A MANE Select NP_597721.2:n.501+494G>A
NM_001007169.6:c.501+494G>A NP_001007170.1:n.501+494G>A