Canonical Allele Identifier: CA554967
Community Standard Title: NM_015102.5(NPHP4):c.7G>T (p.Asp3Tyr)
Gene: NPHP4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.5986283C>A , CM000663.2:g.5986283C>A GRCh38
NC_000001.10:g.6046343C>A , CM000663.1:g.6046343C>A GRCh37
NC_000001.9:g.5968930C>A NCBI36
NG_011724.2:g.11189G>T

Transcript Alleles

HGVS Amino-acid Change
NM_015102.5:c.7G>T MANE Select NP_055917.1:p.Asp3Tyr
ENST00000378156.9:c.7G>T MANE Select ENSP00000367398.4:p.Asp3Tyr
NM_001291593.1:c.-1223G>T NP_001278522.1:n.-1223G>T
NM_001291593.2:c.-1223G>T NP_001278522.1:n.-1223G>T
NM_001291594.1:c.-1088+5961G>T NP_001278523.1:n.-1088+5961G>T
NM_001291594.2:c.-1088+5961G>T NP_001278523.1:n.-1088+5961G>T
NM_015102.4:c.7G>T NP_055917.1:p.Asp3Tyr
NR_111987.1:n.275G>T
NR_111987.2:n.227G>T
ENST00000378156.8:c.7G>T ENSP00000367398.4:p.Asp3Tyr
ENST00000378169.7:c.7G>T ENSP00000367411.3:p.Asp3Tyr
ENST00000478423.6:n.181+5961G>T
ENST00000489180.6:c.7G>T ENSP00000423747.1:p.Asp3Tyr
ENST00000622020.4:c.7G>T ENSP00000481831.2:p.Asp3Tyr
XM_006710563.2:c.7G>T XP_006710626.1:p.Asp3Tyr
XM_006710563.3:c.7G>T XP_006710626.1:p.Asp3Tyr
XM_006710565.2:c.7G>T XP_006710628.1:p.Asp3Tyr
XM_011541213.1:c.7G>T XP_011539515.1:p.Asp3Tyr
XM_011541214.1:c.7G>T XP_011539516.1:p.Asp3Tyr
XM_011541215.1:c.7G>T XP_011539517.1:p.Asp3Tyr
XM_011541216.1:c.7G>T XP_011539518.1:p.Asp3Tyr
XM_011541216.2:c.7G>T XP_011539518.1:p.Asp3Tyr
XM_011541217.1:c.7G>T XP_011539519.1:p.Asp3Tyr
XM_011541217.2:c.7G>T XP_011539519.1:p.Asp3Tyr
XM_011541218.1:c.7G>T XP_011539520.1:p.Asp3Tyr
XM_011541218.2:c.7G>T XP_011539520.1:p.Asp3Tyr
XM_011541219.1:c.4-51G>T XP_011539521.1:n.4-51G>T
XM_011541220.1:c.7G>T XP_011539522.1:p.Asp3Tyr
XM_017000996.1:c.7G>T XP_016856485.1:p.Asp3Tyr
XM_017000997.1:c.7G>T XP_016856486.1:p.Asp3Tyr
XM_017000998.1:c.7G>T XP_016856487.1:p.Asp3Tyr
XM_017000999.1:c.-471-51G>T XP_016856488.1:n.-471-51G>T
XM_017001002.1:c.7G>T XP_016856491.1:p.Asp3Tyr
XR_001737114.1:n.45G>T
XR_001737115.1:n.45G>T
XR_946604.1:n.45G>T
XR_946605.1:n.45G>T