Canonical Allele Identifier: CA372081801
Gene: ZFAT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.134610511G>T , CM000670.2:g.134610511G>T GRCh38
NC_000008.10:g.135622754G>T , CM000670.1:g.135622754G>T GRCh37
NC_000008.9:g.135691936G>T NCBI36
NG_016356.1:g.107539C>A
NG_016356.2:g.107539C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000377838.8:c.593C>A MANE Select ENSP00000367069.3:p.Pro198His
ENST00000377838.7:c.593C>A ENSP00000367069.3:p.Pro198His
ENST00000429442.6:c.557C>A ENSP00000394501.2:p.Pro186His
ENST00000518191.1:c.413-1632C>A ENSP00000428192.1:n.413-1632C>A
ENST00000520214.5:c.557C>A ENSP00000428483.1:p.Pro186His
ENST00000520356.5:c.557C>A ENSP00000427879.1:p.Pro186His
ENST00000520727.5:c.557C>A ENSP00000427831.1:p.Pro186His
ENST00000522257.5:c.407C>A ENSP00000429983.1:p.Pro136His
ENST00000522974.5:n.698C>A
ENST00000523040.1:n.278C>A
ENST00000523243.5:c.593C>A ENSP00000429930.1:p.Pro198His
ENST00000523399.5:c.449-1632C>A ENSP00000429091.1:n.449-1632C>A
ENST00000523924.5:c.*575C>A ENSP00000429050.1:n.*575C>A
NM_001029939.3:c.557C>A NP_001025110.2:p.Pro186His
NM_001167583.2:c.557C>A NP_001161055.1:p.Pro186His
NM_001174157.1:c.449-1632C>A NP_001167628.1:n.449-1632C>A
NM_001174158.1:c.557C>A NP_001167629.1:p.Pro186His
NM_001289394.1:c.557C>A NP_001276323.1:p.Pro186His
NM_020863.3:c.593C>A NP_065914.2:p.Pro198His
NR_110323.1:n.779C>A
XM_011517203.1:c.557C>A XP_011515505.1:p.Pro186His
XM_011517204.1:c.407C>A XP_011515506.1:p.Pro136His
XM_011517205.1:c.557C>A XP_011515507.1:p.Pro186His
XM_011517206.1:c.557C>A XP_011515508.1:p.Pro186His
XR_928343.1:n.574C>A
XM_011517204.2:c.407C>A XP_011515506.1:p.Pro136His
XM_011517206.2:c.557C>A XP_011515508.1:p.Pro186His
XM_017013716.1:c.557C>A XP_016869205.1:p.Pro186His
XR_001745568.1:n.574C>A
XR_001745569.1:n.574C>A
XR_001745570.1:n.574C>A
XR_928343.2:n.574C>A
NM_020863.4:c.593C>A MANE Select NP_065914.2:p.Pro198His
NM_001029939.4:c.557C>A NP_001025110.2:p.Pro186His
NM_001167583.3:c.557C>A NP_001161055.1:p.Pro186His
NM_001174157.2:c.449-1632C>A NP_001167628.1:n.449-1632C>A
NM_001174158.2:c.557C>A NP_001167629.1:p.Pro186His
NM_001289394.2:c.557C>A NP_001276323.1:p.Pro186His
NR_110323.2:n.761C>A