Canonical Allele Identifier: CA12594296
Gene: ZKSCAN5 HGNC NCBI

Linked Data

dbSNP Id: rs12533251
gnomAD v2: 7-99115677-G-A
gnomAD v3: 7-99518054-G-A
gnomAD v4: 7-99518054-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.99518054G>A , CM000669.2:g.99518054G>A GRCh38
NC_000007.13:g.99115677G>A , CM000669.1:g.99115677G>A GRCh37
NC_000007.12:g.98953613G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000326775.10:c.554-1773G>A MANE Select ENSP00000322872.5:n.554-1773G>A
ENST00000326775.9:c.554-1773G>A ENSP00000322872.5:n.554-1773G>A
ENST00000394170.6:c.554-1773G>A ENSP00000377725.2:n.554-1773G>A
ENST00000451158.5:c.554-1773G>A ENSP00000392104.1:n.554-1773G>A
ENST00000454175.1:c.554-1773G>A ENSP00000405716.1:n.554-1773G>A
NM_014569.3:c.554-1773G>A NP_055384.1:n.554-1773G>A
NM_145102.2:c.554-1773G>A NP_659570.1:n.554-1773G>A
XM_005250242.2:c.553+5463G>A XP_005250299.1:n.553+5463G>A
XM_005250243.2:c.-103-1773G>A XP_005250300.1:n.-103-1773G>A
XM_006715913.2:c.554-1773G>A XP_006715976.1:n.554-1773G>A
XM_011515999.1:c.107-1773G>A XP_011514301.1:n.107-1773G>A
NM_001318082.1:c.554-1773G>A NP_001305011.1:n.554-1773G>A
NM_001318083.1:c.553+5463G>A NP_001305012.1:n.553+5463G>A
NM_001318084.1:c.-103-1773G>A NP_001305013.1:n.-103-1773G>A
NM_145102.3:c.554-1773G>A NP_659570.1:n.554-1773G>A
XM_011515999.2:c.107-1773G>A XP_011514301.1:n.107-1773G>A
XM_017011921.2:c.554-1773G>A XP_016867410.1:n.554-1773G>A
XM_017011922.1:c.554-1773G>A XP_016867411.1:n.554-1773G>A
XM_017011924.1:c.553+5463G>A XP_016867413.1:n.553+5463G>A
XM_017011925.1:c.107-1773G>A XP_016867414.1:n.107-1773G>A
NM_001318082.2:c.554-1773G>A NP_001305011.1:n.554-1773G>A
NM_001318083.2:c.553+5463G>A NP_001305012.1:n.553+5463G>A
NM_014569.4:c.554-1773G>A NP_055384.1:n.554-1773G>A
NM_145102.4:c.554-1773G>A MANE Select NP_659570.1:n.554-1773G>A