Canonical Allele Identifier: CA553794
Community Standard Title: NM_015102.5(NPHP4):c.3105G>A (p.Pro1035=)
Gene: NPHP4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.5874597C>T , CM000663.2:g.5874597C>T GRCh38
NC_000001.10:g.5934657C>T , CM000663.1:g.5934657C>T GRCh37
NC_000001.9:g.5857244C>T NCBI36
NG_011724.2:g.122875G>A

Transcript Alleles

HGVS Amino-acid Change
NM_015102.5:c.3105G>A MANE Select NP_055917.1:p.Pro1035=
ENST00000378156.9:c.3105G>A MANE Select ENSP00000367398.4:p.Pro1035=
NM_001291593.1:c.1566G>A NP_001278522.1:p.Pro522=
NM_001291593.2:c.1566G>A NP_001278522.1:p.Pro522=
NM_001291594.1:c.1569G>A NP_001278523.1:p.Pro523=
NM_001291594.2:c.1569G>A NP_001278523.1:p.Pro523=
NM_015102.4:c.3105G>A NP_055917.1:p.Pro1035=
NR_111987.1:n.3920G>A
NR_111987.2:n.3872G>A
ENST00000378156.8:c.3105G>A ENSP00000367398.4:p.Pro1035=
ENST00000378169.7:c.*2006G>A ENSP00000367411.3:n.*2006G>A
ENST00000478423.6:n.2837G>A
ENST00000489180.6:c.*916G>A ENSP00000423747.1:n.*916G>A
XM_006710563.2:c.3105G>A XP_006710626.1:p.Pro1035=
XM_006710563.3:c.3105G>A XP_006710626.1:p.Pro1035=
XM_006710565.2:c.3105G>A XP_006710628.1:p.Pro1035=
XM_011541213.1:c.3102G>A XP_011539515.1:p.Pro1034=
XM_011541214.1:c.3063G>A XP_011539516.1:p.Pro1021=
XM_011541215.1:c.2994G>A XP_011539517.1:p.Pro998=
XM_011541216.1:c.3105G>A XP_011539518.1:p.Pro1035=
XM_011541216.2:c.3105G>A XP_011539518.1:p.Pro1035=
XM_011541217.1:c.3105G>A XP_011539519.1:p.Pro1035=
XM_011541217.2:c.3105G>A XP_011539519.1:p.Pro1035=
XM_011541218.1:c.3105G>A XP_011539520.1:p.Pro1035=
XM_011541218.2:c.3105G>A XP_011539520.1:p.Pro1035=
XM_011541219.1:c.3051G>A XP_011539521.1:p.Pro1017=
XM_011541220.1:c.3105G>A XP_011539522.1:p.Pro1035=
XM_017000996.1:c.3060G>A XP_016856485.1:p.Pro1020=
XM_017000997.1:c.3105G>A XP_016856486.1:p.Pro1035=
XM_017000998.1:c.3105G>A XP_016856487.1:p.Pro1035=
XM_017000999.1:c.2577G>A XP_016856488.1:p.Pro859=
XM_017001000.2:c.2577G>A XP_016856489.1:p.Pro859=
XM_017001001.1:c.2307G>A XP_016856490.1:p.Pro769=
XM_017001003.1:c.1566G>A XP_016856492.1:p.Pro522=
XR_001737114.1:n.3143G>A
XR_001737115.1:n.3082+277G>A
XR_946604.1:n.3082+277G>A