Canonical Allele Identifier: CA372080419
Gene: ZFAT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.134602514A>C , CM000670.2:g.134602514A>C GRCh38
NC_000008.10:g.135614757A>C , CM000670.1:g.135614757A>C GRCh37
NC_000008.9:g.135683939A>C NCBI36
NG_016356.1:g.115536T>G
NG_016356.2:g.115536T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000377838.8:c.1205T>G MANE Select ENSP00000367069.3:p.Leu402Arg
ENST00000377838.7:c.1205T>G ENSP00000367069.3:p.Leu402Arg
ENST00000429442.6:c.1169T>G ENSP00000394501.2:p.Leu390Arg
ENST00000520214.5:c.1169T>G ENSP00000428483.1:p.Leu390Arg
ENST00000520356.5:c.1169T>G ENSP00000427879.1:p.Leu390Arg
ENST00000520727.5:c.1169T>G ENSP00000427831.1:p.Leu390Arg
ENST00000522974.5:n.1310T>G
ENST00000523243.5:c.1205T>G ENSP00000429930.1:p.Leu402Arg
ENST00000523399.5:c.1019T>G ENSP00000429091.1:p.Leu340Arg
ENST00000523924.5:c.*1187T>G ENSP00000429050.1:n.*1187T>G
NM_001029939.3:c.1169T>G NP_001025110.2:p.Leu390Arg
NM_001167583.2:c.1169T>G NP_001161055.1:p.Leu390Arg
NM_001174157.1:c.1019T>G NP_001167628.1:p.Leu340Arg
NM_001174158.1:c.1169T>G NP_001167629.1:p.Leu390Arg
NM_001289394.1:c.1169T>G NP_001276323.1:p.Leu390Arg
NM_020863.3:c.1205T>G NP_065914.2:p.Leu402Arg
NR_110323.1:n.1391T>G
XM_011517203.1:c.1169T>G XP_011515505.1:p.Leu390Arg
XM_011517204.1:c.1019T>G XP_011515506.1:p.Leu340Arg
XM_011517205.1:c.1169T>G XP_011515507.1:p.Leu390Arg
XM_011517206.1:c.1169T>G XP_011515508.1:p.Leu390Arg
XR_928343.1:n.1186T>G
XM_011517204.2:c.1019T>G XP_011515506.1:p.Leu340Arg
XM_011517206.2:c.1169T>G XP_011515508.1:p.Leu390Arg
XM_017013716.1:c.1169T>G XP_016869205.1:p.Leu390Arg
XR_001745568.1:n.1186T>G
XR_001745569.1:n.1186T>G
XR_001745570.1:n.1186T>G
XR_928343.2:n.1186T>G
NM_020863.4:c.1205T>G MANE Select NP_065914.2:p.Leu402Arg
NM_001029939.4:c.1169T>G NP_001025110.2:p.Leu390Arg
NM_001167583.3:c.1169T>G NP_001161055.1:p.Leu390Arg
NM_001174157.2:c.1019T>G NP_001167628.1:p.Leu340Arg
NM_001174158.2:c.1169T>G NP_001167629.1:p.Leu390Arg
NM_001289394.2:c.1169T>G NP_001276323.1:p.Leu390Arg
NR_110323.2:n.1373T>G