Canonical Allele Identifier: CA359466304

Gene: NPR3

Linked Data

• ClinVar Variation Id: 1369908
• ClinVar RCV Id: RCV001870879
• dbSNP Id: rs1460036658
• MyVariant Identifiers: chr5:g.32712042G>C (hg19) ; chr5:g.32711936G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.32711936G>C , CM000667.2:g.32711936G>C	GRCh38
NC_000005.9:g.32712042G>C , CM000667.1:g.32712042G>C	GRCh37
NC_000005.8:g.32747799G>C	NCBI36
NG_028162.1:g.6300G>C
NG_028162.2:g.27861G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265074.13:c.160G>C MANE Select	ENSP00000265074.8:p.Glu54Gln
ENST00000265074.12:c.160G>C	ENSP00000265074.8:p.Glu54Gln
ENST00000326958.5:c.121+1153G>C	ENSP00000318340.2:n.121+1153G>C
ENST00000415167.2:c.160G>C	ENSP00000398028.2:p.Glu54Gln
ENST00000434067.6:c.121+1153G>C	ENSP00000388408.2:n.121+1153G>C
ENST00000506712.1:n.130+1153G>C
ENST00000509104.5:c.101-12762G>C	ENSP00000425325.1:n.101-12762G>C
NM_000908.3:c.160G>C	NP_000899.1:p.Glu54Gln
NM_001204375.1:c.160G>C	NP_001191304.1:p.Glu54Gln
NM_001204376.1:c.121+1153G>C	NP_001191305.1:n.121+1153G>C
XM_005248309.1:c.121+1153G>C	XP_005248366.1:n.121+1153G>C
XM_005248310.2:c.160G>C	XP_005248367.1:p.Glu54Gln
XM_011514047.1:c.101-12762G>C	XP_011512349.1:n.101-12762G>C
XM_011514048.1:c.50-12762G>C	XP_011512350.1:n.50-12762G>C
XM_011514049.1:c.-8-12762G>C	XP_011512351.1:n.-8-12762G>C
XM_011514050.1:c.160G>C	XP_011512352.1:p.Glu54Gln
NM_001363652.1:c.121+1153G>C	NP_001350581.1:n.121+1153G>C
NM_001364458.1:c.50-12762G>C	NP_001351387.1:n.50-12762G>C
NM_001364460.1:c.121+1153G>C	NP_001351389.1:n.121+1153G>C
XM_011514047.2:c.101-12762G>C	XP_011512349.1:n.101-12762G>C
XM_011514049.3:c.-8-12762G>C	XP_011512351.1:n.-8-12762G>C
XM_011514050.2:c.160G>C	XP_011512352.1:p.Glu54Gln
XM_017009492.2:c.160G>C	XP_016864981.1:p.Glu54Gln
NM_001204375.2:c.160G>C MANE Select	NP_001191304.1:p.Glu54Gln
NM_000908.4:c.160G>C	NP_000899.1:p.Glu54Gln
NM_001363652.2:c.121+1153G>C	NP_001350581.1:n.121+1153G>C
NM_001364458.2:c.50-12762G>C	NP_001351387.1:n.50-12762G>C
NM_001364460.2:c.121+1153G>C	NP_001351389.1:n.121+1153G>C
NM_001204376.2:c.121+1153G>C	NP_001191305.1:n.121+1153G>C