Canonical Allele Identifier: CA283373738
Community Standard Title: NM_138713.4(NFAT5):c.2840C>T (p.Ser947Leu)
Gene: NFAT5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.69692665C>T , CM000678.2:g.69692665C>T GRCh38
NC_000016.9:g.69726568C>T , CM000678.1:g.69726568C>T GRCh37
NC_000016.8:g.68284069C>T NCBI36
NG_029600.1:g.132572C>T

Transcript Alleles

HGVS Amino-acid Change
NM_138713.4:c.2840C>T MANE Select NP_619727.2:p.Ser947Leu
ENST00000349945.7:c.2840C>T MANE Select ENSP00000338806.3:p.Ser947Leu
NM_001113178.2:c.2837C>T NP_001106649.1:p.Ser946Leu
NM_001113178.3:c.2837C>T NP_001106649.1:p.Ser946Leu
NM_001367709.1:c.2165C>T NP_001354638.1:p.Ser722Leu
NM_006599.3:c.2786C>T NP_006590.1:p.Ser929Leu
NM_006599.4:c.2786C>T NP_006590.1:p.Ser929Leu
NM_138713.3:c.2840C>T NP_619727.2:p.Ser947Leu
NM_138714.3:c.2558C>T NP_619728.2:p.Ser853Leu
NM_138714.4:c.2558C>T NP_619728.2:p.Ser853Leu
NM_173214.2:c.2558C>T NP_775321.1:p.Ser853Leu
NM_173214.3:c.2558C>T NP_775321.1:p.Ser853Leu
NM_173215.2:c.2558C>T NP_775322.1:p.Ser853Leu
NM_173215.3:c.2558C>T NP_775322.1:p.Ser853Leu
ENST00000349945.5:c.2558C>T ENSP00000338806.2:p.Ser853Leu
ENST00000354436.6:c.2786C>T ENSP00000346420.2:p.Ser929Leu
ENST00000393742.6:c.2558C>T ENSP00000377343.2:p.Ser853Leu
ENST00000393742.7:c.*2602C>T ENSP00000377343.3:n.*2602C>T
ENST00000426654.6:c.*2602C>T ENSP00000413126.2:n.*2602C>T
ENST00000565301.1:c.37-1421C>T ENSP00000463214.1:n.37-1421C>T
ENST00000565301.2:c.297-1421C>T
ENST00000566899.5:c.2558C>T ENSP00000455628.1:p.Ser853Leu
ENST00000566899.6:c.2799C>T
ENST00000567239.5:c.2837C>T ENSP00000457593.1:p.Ser946Leu
ENST00000627621.2:c.2840C>T ENSP00000486610.1:p.Ser947Leu
ENST00000627621.3:c.*1956C>T ENSP00000486610.2:n.*1956C>T
ENST00000650987.1:c.*1956C>T ENSP00000498326.1:n.*1956C>T
XM_006721125.2:c.2645C>T XP_006721188.1:p.Ser882Leu
XM_006721125.4:c.2645C>T XP_006721188.1:p.Ser882Leu
XM_011522817.1:c.2783C>T XP_011521119.1:p.Ser928Leu
XM_011522817.3:c.2783C>T XP_011521119.1:p.Ser928Leu
XM_011522818.1:c.2558C>T XP_011521120.1:p.Ser853Leu
XM_011522818.3:c.2558C>T XP_011521120.1:p.Ser853Leu
XM_011522819.1:c.2168C>T XP_011521121.1:p.Ser723Leu
XM_011522819.3:c.2168C>T XP_011521121.1:p.Ser723Leu
XM_011522820.1:c.2168C>T XP_011521122.1:p.Ser723Leu
XM_011522820.3:c.2168C>T XP_011521122.1:p.Ser723Leu
XM_011522821.1:c.2168C>T XP_011521123.1:p.Ser723Leu
XM_011522822.1:c.2168C>T XP_011521124.1:p.Ser723Leu
XM_011522822.3:c.2168C>T XP_011521124.1:p.Ser723Leu
XM_017022870.2:c.2558C>T XP_016878359.1:p.Ser853Leu
XM_017022871.2:c.2555C>T XP_016878360.1:p.Ser852Leu
XM_017022872.2:c.2168C>T XP_016878361.1:p.Ser723Leu
XM_017022873.2:c.2165C>T XP_016878362.1:p.Ser722Leu