Canonical Allele Identifier: CA372079815
Gene: ZFAT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.134602238A>G , CM000670.2:g.134602238A>G GRCh38
NC_000008.10:g.135614481A>G , CM000670.1:g.135614481A>G GRCh37
NC_000008.9:g.135683663A>G NCBI36
NG_016356.1:g.115812T>C
NG_016356.2:g.115812T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000377838.8:c.1481T>C MANE Select ENSP00000367069.3:p.Ile494Thr
ENST00000377838.7:c.1481T>C ENSP00000367069.3:p.Ile494Thr
ENST00000429442.6:c.1445T>C ENSP00000394501.2:p.Ile482Thr
ENST00000520214.5:c.1445T>C ENSP00000428483.1:p.Ile482Thr
ENST00000520356.5:c.1445T>C ENSP00000427879.1:p.Ile482Thr
ENST00000520727.5:c.1445T>C ENSP00000427831.1:p.Ile482Thr
ENST00000522974.5:n.1586T>C
ENST00000523243.5:c.1481T>C ENSP00000429930.1:p.Ile494Thr
ENST00000523399.5:c.1295T>C ENSP00000429091.1:p.Ile432Thr
ENST00000523924.5:c.*1463T>C ENSP00000429050.1:n.*1463T>C
NM_001029939.3:c.1445T>C NP_001025110.2:p.Ile482Thr
NM_001167583.2:c.1445T>C NP_001161055.1:p.Ile482Thr
NM_001174157.1:c.1295T>C NP_001167628.1:p.Ile432Thr
NM_001174158.1:c.1445T>C NP_001167629.1:p.Ile482Thr
NM_001289394.1:c.1445T>C NP_001276323.1:p.Ile482Thr
NM_020863.3:c.1481T>C NP_065914.2:p.Ile494Thr
NR_110323.1:n.1667T>C
XM_011517203.1:c.1445T>C XP_011515505.1:p.Ile482Thr
XM_011517204.1:c.1295T>C XP_011515506.1:p.Ile432Thr
XM_011517205.1:c.1445T>C XP_011515507.1:p.Ile482Thr
XM_011517206.1:c.1445T>C XP_011515508.1:p.Ile482Thr
XR_928343.1:n.1462T>C
XM_011517204.2:c.1295T>C XP_011515506.1:p.Ile432Thr
XM_011517206.2:c.1445T>C XP_011515508.1:p.Ile482Thr
XM_017013716.1:c.1445T>C XP_016869205.1:p.Ile482Thr
XR_001745568.1:n.1462T>C
XR_001745569.1:n.1462T>C
XR_001745570.1:n.1462T>C
XR_928343.2:n.1462T>C
NM_020863.4:c.1481T>C MANE Select NP_065914.2:p.Ile494Thr
NM_001029939.4:c.1445T>C NP_001025110.2:p.Ile482Thr
NM_001167583.3:c.1445T>C NP_001161055.1:p.Ile482Thr
NM_001174157.2:c.1295T>C NP_001167628.1:p.Ile432Thr
NM_001174158.2:c.1445T>C NP_001167629.1:p.Ile482Thr
NM_001289394.2:c.1445T>C NP_001276323.1:p.Ile482Thr
NR_110323.2:n.1649T>C