Canonical Allele Identifier: CA3222669
Gene: NPR3 HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.32784801G>A
GRCh37 chr5:g.32784907G>A
Revel Score:
ENST00000434067 0.236
ENST00000415685 0.236
ENST00000265074 (MANE Select) 0.236
ENST00000415167 0.236
gnomAD v2:
5:32784907 G / A
gnomAD v3:
5:32784801 G / A
gnomAD v4:
chr5-32784801-G-A
Joint Max Group AF 0.00265543 (NFE)
Genomes Max Group AF 0.00254673 (AMR)
Exomes Max Group AF 0.00266419 (NFE)
ClinVar RCV:
RCV001423797
ClinVar Variation:
1101009
dbSNP:
146301345
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.32784801G>A , CM000667.2:g.32784801G>A GRCh38
NC_000005.9:g.32784907G>A , CM000667.1:g.32784907G>A GRCh37
NC_000005.8:g.32820664G>A NCBI36
NG_028162.1:g.79165G>A
NG_028162.2:g.100726G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000265074.13:c.1432G>A MANE Select ENSP00000265074.8:p.Gly478Ser
ENST00000265074.12:c.1432G>A ENSP00000265074.8:p.Gly478Ser
ENST00000326958.5:c.781G>A ENSP00000318340.2:p.Gly261Ser
ENST00000415167.2:c.1429G>A ENSP00000398028.2:p.Gly477Ser
ENST00000434067.6:c.784G>A ENSP00000388408.2:p.Gly262Ser
NM_000908.3:c.1429G>A NP_000899.1:p.Gly477Ser
NM_001204375.1:c.1432G>A NP_001191304.1:p.Gly478Ser
NM_001204376.1:c.781G>A NP_001191305.1:p.Gly261Ser
XM_005248309.1:c.784G>A XP_005248366.1:p.Gly262Ser
XM_011514047.1:c.763G>A XP_011512349.1:p.Gly255Ser
XM_011514048.1:c.712G>A XP_011512350.1:p.Gly238Ser
XM_011514049.1:c.655G>A XP_011512351.1:p.Gly219Ser
NM_001363652.1:c.784G>A NP_001350581.1:p.Gly262Ser
NM_001364458.1:c.712G>A NP_001351387.1:p.Gly238Ser
NM_001364460.1:c.661G>A NP_001351389.1:p.Gly221Ser
XM_011514047.2:c.763G>A XP_011512349.1:p.Gly255Ser
XM_011514049.3:c.655G>A XP_011512351.1:p.Gly219Ser
XM_017009492.2:c.1309G>A XP_016864981.1:p.Gly437Ser
NM_001204375.2:c.1432G>A MANE Select NP_001191304.1:p.Gly478Ser
NM_000908.4:c.1429G>A NP_000899.1:p.Gly477Ser
NM_001363652.2:c.784G>A NP_001350581.1:p.Gly262Ser
NM_001364458.2:c.712G>A NP_001351387.1:p.Gly238Ser
NM_001364460.2:c.661G>A NP_001351389.1:p.Gly221Ser
NM_001204376.2:c.781G>A NP_001191305.1:p.Gly261Ser
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