Canonical Allele Identifier: CA372082033
Gene: ZFAT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.134610618C>A , CM000670.2:g.134610618C>A GRCh38
NC_000008.10:g.135622861C>A , CM000670.1:g.135622861C>A GRCh37
NC_000008.9:g.135692043C>A NCBI36
NG_016356.1:g.107432G>T
NG_016356.2:g.107432G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000377838.8:c.486G>T MANE Select ENSP00000367069.3:p.Lys162Asn
ENST00000377838.7:c.486G>T ENSP00000367069.3:p.Lys162Asn
ENST00000429442.6:c.450G>T ENSP00000394501.2:p.Lys150Asn
ENST00000518191.1:c.413-1739G>T ENSP00000428192.1:n.413-1739G>T
ENST00000520214.5:c.450G>T ENSP00000428483.1:p.Lys150Asn
ENST00000520356.5:c.450G>T ENSP00000427879.1:p.Lys150Asn
ENST00000520727.5:c.450G>T ENSP00000427831.1:p.Lys150Asn
ENST00000522257.5:c.300G>T ENSP00000429983.1:p.Lys100Asn
ENST00000522974.5:n.591G>T
ENST00000523040.1:n.171G>T
ENST00000523243.5:c.486G>T ENSP00000429930.1:p.Lys162Asn
ENST00000523399.5:c.449-1739G>T ENSP00000429091.1:n.449-1739G>T
ENST00000523924.5:c.*468G>T ENSP00000429050.1:n.*468G>T
NM_001029939.3:c.450G>T NP_001025110.2:p.Lys150Asn
NM_001167583.2:c.450G>T NP_001161055.1:p.Lys150Asn
NM_001174157.1:c.449-1739G>T NP_001167628.1:n.449-1739G>T
NM_001174158.1:c.450G>T NP_001167629.1:p.Lys150Asn
NM_001289394.1:c.450G>T NP_001276323.1:p.Lys150Asn
NM_020863.3:c.486G>T NP_065914.2:p.Lys162Asn
NR_110323.1:n.672G>T
XM_011517203.1:c.450G>T XP_011515505.1:p.Lys150Asn
XM_011517204.1:c.300G>T XP_011515506.1:p.Lys100Asn
XM_011517205.1:c.450G>T XP_011515507.1:p.Lys150Asn
XM_011517206.1:c.450G>T XP_011515508.1:p.Lys150Asn
XR_928343.1:n.467G>T
XM_011517204.2:c.300G>T XP_011515506.1:p.Lys100Asn
XM_011517206.2:c.450G>T XP_011515508.1:p.Lys150Asn
XM_017013716.1:c.450G>T XP_016869205.1:p.Lys150Asn
XR_001745568.1:n.467G>T
XR_001745569.1:n.467G>T
XR_001745570.1:n.467G>T
XR_928343.2:n.467G>T
NM_020863.4:c.486G>T MANE Select NP_065914.2:p.Lys162Asn
NM_001029939.4:c.450G>T NP_001025110.2:p.Lys150Asn
NM_001167583.3:c.450G>T NP_001161055.1:p.Lys150Asn
NM_001174157.2:c.449-1739G>T NP_001167628.1:n.449-1739G>T
NM_001174158.2:c.450G>T NP_001167629.1:p.Lys150Asn
NM_001289394.2:c.450G>T NP_001276323.1:p.Lys150Asn
NR_110323.2:n.654G>T