Canonical Allele Identifier: CA372077183
Gene: ZFAT HGNC NCBI
MyVariant.info:
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.134532867C>G , CM000670.2:g.134532867C>G GRCh38
NC_000008.10:g.135545110C>G , CM000670.1:g.135545110C>G GRCh37
NC_000008.9:g.135614292C>G NCBI36
NG_016356.1:g.185183G>C
NG_016356.2:g.185183G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000377838.8:c.3082G>C MANE Select ENSP00000367069.3:p.Gly1028Arg
ENST00000377838.7:c.3082G>C ENSP00000367069.3:p.Gly1028Arg
ENST00000429442.6:c.3046G>C ENSP00000394501.2:p.Gly1016Arg
ENST00000517307.5:n.686G>C
ENST00000518408.5:n.445G>C
ENST00000520214.5:c.3046G>C ENSP00000428483.1:p.Gly1016Arg
ENST00000520356.5:c.3046G>C ENSP00000427879.1:p.Gly1016Arg
ENST00000520727.5:c.3046G>C ENSP00000427831.1:p.Gly1016Arg
ENST00000523243.5:c.*251G>C ENSP00000429930.1:n.*251G>C
ENST00000523399.5:c.2896G>C ENSP00000429091.1:p.Gly966Arg
ENST00000523924.5:c.*3064G>C ENSP00000429050.1:n.*3064G>C
NM_001029939.3:c.3046G>C NP_001025110.2:p.Gly1016Arg
NM_001167583.2:c.3046G>C NP_001161055.1:p.Gly1016Arg
NM_001174157.1:c.2896G>C NP_001167628.1:p.Gly966Arg
NM_001174158.1:c.3046G>C NP_001167629.1:p.Gly1016Arg
NM_001289394.1:c.3046G>C NP_001276323.1:p.Gly1016Arg
NM_020863.3:c.3082G>C NP_065914.2:p.Gly1028Arg
NR_110323.1:n.3434G>C
XM_011517203.1:c.3046G>C XP_011515505.1:p.Gly1016Arg
XM_011517204.1:c.2896G>C XP_011515506.1:p.Gly966Arg
XM_011517206.1:c.3046G>C XP_011515508.1:p.Gly1016Arg
XR_928343.1:n.3063G>C
XM_011517204.2:c.2896G>C XP_011515506.1:p.Gly966Arg
XM_011517206.2:c.3046G>C XP_011515508.1:p.Gly1016Arg
XM_017013716.1:c.3046G>C XP_016869205.1:p.Gly1016Arg
XR_001745569.1:n.2974G>C
XR_928343.2:n.3063G>C
NM_020863.4:c.3082G>C MANE Select NP_065914.2:p.Gly1028Arg
NM_001029939.4:c.3046G>C NP_001025110.2:p.Gly1016Arg
NM_001167583.3:c.3046G>C NP_001161055.1:p.Gly1016Arg
NM_001174157.2:c.2896G>C NP_001167628.1:p.Gly966Arg
NM_001174158.2:c.3046G>C NP_001167629.1:p.Gly1016Arg
NM_001289394.2:c.3046G>C NP_001276323.1:p.Gly1016Arg
NR_110323.2:n.3416G>C