Canonical Allele Identifier: CA8135459

Gene: NFAT5

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.69655622A>G , CM000678.2:g.69655622A>G	GRCh38
NC_000016.9:g.69689525A>G , CM000678.1:g.69689525A>G	GRCh37
NC_000016.8:g.68247026A>G	NCBI36
NG_029600.1:g.95529A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_138713.4:c.1019A>G MANE Select	NP_619727.2:p.Asn340Ser
ENST00000349945.7:c.1019A>G MANE Select	ENSP00000338806.3:p.Asn340Ser
NM_001113178.2:c.1019A>G	NP_001106649.1:p.Asn340Ser
NM_001113178.3:c.1019A>G	NP_001106649.1:p.Asn340Ser
NM_001367709.1:c.347A>G	NP_001354638.1:p.Asn116Ser
NM_006599.3:c.965A>G	NP_006590.1:p.Asn322Ser
NM_006599.4:c.965A>G	NP_006590.1:p.Asn322Ser
NM_138713.3:c.1019A>G	NP_619727.2:p.Asn340Ser
NM_138714.3:c.737A>G	NP_619728.2:p.Asn246Ser
NM_138714.4:c.737A>G	NP_619728.2:p.Asn246Ser
NM_173214.2:c.737A>G	NP_775321.1:p.Asn246Ser
NM_173214.3:c.737A>G	NP_775321.1:p.Asn246Ser
NM_173215.2:c.737A>G	NP_775322.1:p.Asn246Ser
NM_173215.3:c.737A>G	NP_775322.1:p.Asn246Ser
ENST00000349945.5:c.737A>G	ENSP00000338806.2:p.Asn246Ser
ENST00000354436.6:c.965A>G	ENSP00000346420.2:p.Asn322Ser
ENST00000393742.6:c.737A>G	ENSP00000377343.2:p.Asn246Ser
ENST00000393742.7:c.*781A>G	ENSP00000377343.3:n.*781A>G
ENST00000426654.6:c.*781A>G	ENSP00000413126.2:n.*781A>G
ENST00000563474.2:c.207A>G
ENST00000565301.1:c.36+8455A>G	ENSP00000463214.1:n.36+8455A>G
ENST00000565301.2:c.296+8455A>G
ENST00000566899.5:c.737A>G	ENSP00000455628.1:p.Asn246Ser
ENST00000566899.6:c.978A>G
ENST00000567239.5:c.1019A>G	ENSP00000457593.1:p.Asn340Ser
ENST00000567990.5:c.*362A>G	ENSP00000455115.1:n.*362A>G
ENST00000627621.2:c.1019A>G	ENSP00000486610.1:p.Asn340Ser
ENST00000627621.3:c.*138A>G	ENSP00000486610.2:n.*138A>G
ENST00000650987.1:c.*138A>G	ENSP00000498326.1:n.*138A>G
ENST00000700079.1:n.268A>G
XM_006721125.2:c.824A>G	XP_006721188.1:p.Asn275Ser
XM_006721125.4:c.824A>G	XP_006721188.1:p.Asn275Ser
XM_011522817.1:c.965A>G	XP_011521119.1:p.Asn322Ser
XM_011522817.3:c.965A>G	XP_011521119.1:p.Asn322Ser
XM_011522818.1:c.737A>G	XP_011521120.1:p.Asn246Ser
XM_011522818.3:c.737A>G	XP_011521120.1:p.Asn246Ser
XM_011522819.1:c.347A>G	XP_011521121.1:p.Asn116Ser
XM_011522819.3:c.347A>G	XP_011521121.1:p.Asn116Ser
XM_011522820.1:c.347A>G	XP_011521122.1:p.Asn116Ser
XM_011522820.3:c.347A>G	XP_011521122.1:p.Asn116Ser
XM_011522821.1:c.347A>G	XP_011521123.1:p.Asn116Ser
XM_011522822.1:c.347A>G	XP_011521124.1:p.Asn116Ser
XM_011522822.3:c.347A>G	XP_011521124.1:p.Asn116Ser
XM_017022870.2:c.737A>G	XP_016878359.1:p.Asn246Ser
XM_017022871.2:c.737A>G	XP_016878360.1:p.Asn246Ser
XM_017022872.2:c.347A>G	XP_016878361.1:p.Asn116Ser
XM_017022873.2:c.347A>G	XP_016878362.1:p.Asn116Ser