Canonical Allele Identifier: CA553776
Community Standard Title: NM_015102.5(NPHP4):c.3160C>A (p.Arg1054Ser)
Gene: NPHP4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.5874542G>T , CM000663.2:g.5874542G>T GRCh38
NC_000001.10:g.5934602G>T , CM000663.1:g.5934602G>T GRCh37
NC_000001.9:g.5857189G>T NCBI36
NG_011724.2:g.122930C>A

Transcript Alleles

HGVS Amino-acid Change
NM_015102.5:c.3160C>A MANE Select NP_055917.1:p.Arg1054Ser
ENST00000378156.9:c.3160C>A MANE Select ENSP00000367398.4:p.Arg1054Ser
NM_001291593.1:c.1621C>A NP_001278522.1:p.Arg541Ser
NM_001291593.2:c.1621C>A NP_001278522.1:p.Arg541Ser
NM_001291594.1:c.1624C>A NP_001278523.1:p.Arg542Ser
NM_001291594.2:c.1624C>A NP_001278523.1:p.Arg542Ser
NM_015102.4:c.3160C>A NP_055917.1:p.Arg1054Ser
NR_111987.1:n.3975C>A
NR_111987.2:n.3927C>A
ENST00000378156.8:c.3160C>A ENSP00000367398.4:p.Arg1054Ser
ENST00000378169.7:c.*2061C>A ENSP00000367411.3:n.*2061C>A
ENST00000478423.6:n.2892C>A
ENST00000489180.6:c.*971C>A ENSP00000423747.1:n.*971C>A
XM_006710563.2:c.3160C>A XP_006710626.1:p.Arg1054Ser
XM_006710563.3:c.3160C>A XP_006710626.1:p.Arg1054Ser
XM_006710565.2:c.3160C>A XP_006710628.1:p.Arg1054Ser
XM_011541213.1:c.3157C>A XP_011539515.1:p.Arg1053Ser
XM_011541214.1:c.3118C>A XP_011539516.1:p.Arg1040Ser
XM_011541215.1:c.3049C>A XP_011539517.1:p.Arg1017Ser
XM_011541216.1:c.3160C>A XP_011539518.1:p.Arg1054Ser
XM_011541216.2:c.3160C>A XP_011539518.1:p.Arg1054Ser
XM_011541217.1:c.3160C>A XP_011539519.1:p.Arg1054Ser
XM_011541217.2:c.3160C>A XP_011539519.1:p.Arg1054Ser
XM_011541218.1:c.3160C>A XP_011539520.1:p.Arg1054Ser
XM_011541218.2:c.3160C>A XP_011539520.1:p.Arg1054Ser
XM_011541219.1:c.3106C>A XP_011539521.1:p.Arg1036Ser
XM_011541220.1:c.3160C>A XP_011539522.1:p.Arg1054Ser
XM_017000996.1:c.3115C>A XP_016856485.1:p.Arg1039Ser
XM_017000997.1:c.3160C>A XP_016856486.1:p.Arg1054Ser
XM_017000998.1:c.3160C>A XP_016856487.1:p.Arg1054Ser
XM_017000999.1:c.2632C>A XP_016856488.1:p.Arg878Ser
XM_017001000.2:c.2632C>A XP_016856489.1:p.Arg878Ser
XM_017001001.1:c.2362C>A XP_016856490.1:p.Arg788Ser
XM_017001003.1:c.1621C>A XP_016856492.1:p.Arg541Ser
XR_001737114.1:n.3198C>A
XR_001737115.1:n.3082+332C>A
XR_946604.1:n.3082+332C>A