Canonical Allele Identifier: CA7769248

Gene: NPRL3

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.86747G>A , CM000678.2:g.86747G>A	GRCh38
NC_000016.9:g.136746G>A , CM000678.1:g.136746G>A	GRCh37
NC_000016.8:g.76746G>A	NCBI36
NG_029669.1:g.56953C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000611875.5:c.1668C>T MANE Select	ENSP00000478273.1:p.His556=
ENST00000399953.7:c.1593C>T	ENSP00000382834.4:p.His531=
ENST00000610509.1:n.2513C>T
ENST00000611875.4:c.1668C>T	ENSP00000478273.1:p.His556=
ENST00000620134.4:c.1668C>T	ENSP00000483814.1:p.His556=
ENST00000621703.4:c.*1253C>T	ENSP00000477801.1:n.*1253C>T
ENST00000622194.4:c.*1304C>T	ENSP00000478045.1:n.*1304C>T
NM_001039476.2:c.1131C>T	NP_001034565.1:p.His377=
NM_001077350.2:c.1668C>T	NP_001070818.1:p.His556=
NM_001243247.1:c.1434C>T	NP_001230176.1:p.His478=
NM_001243248.1:c.1593C>T	NP_001230177.1:p.His531=
NM_001243249.1:c.1593C>T	NP_001230178.1:p.His531=
XM_011522668.1:c.1707C>T	XP_011520970.1:p.His569=
XM_011522669.1:c.1668C>T	XP_011520971.1:p.His556=
XM_011522670.1:c.1668C>T	XP_011520972.1:p.His556=
XM_011522671.1:c.1632C>T	XP_011520973.1:p.His544=
XM_011522672.1:c.1593C>T	XP_011520974.1:p.His531=
XM_011522673.1:c.1593C>T	XP_011520975.1:p.His531=
XM_011522674.1:c.1593C>T	XP_011520976.1:p.His531=
XM_011522675.1:c.1434C>T	XP_011520977.1:p.His478=
XM_011522676.1:c.1434C>T	XP_011520978.1:p.His478=
XM_011522677.1:c.1434C>T	XP_011520979.1:p.His478=
XM_011522678.1:c.1131C>T	XP_011520980.1:p.His377=
XM_011522679.1:c.1131C>T	XP_011520981.1:p.His377=
XM_011522680.1:c.1131C>T	XP_011520982.1:p.His377=
XM_011522681.1:c.1131C>T	XP_011520983.1:p.His377=
NM_001077350.3:c.1668C>T MANE Select	NP_001070818.1:p.His556=
NM_001039476.3:c.1131C>T	NP_001034565.1:p.His377=
NM_001243247.2:c.1434C>T	NP_001230176.1:p.His478=
NM_001243248.2:c.1593C>T	NP_001230177.1:p.His531=
NM_001243249.2:c.1593C>T	NP_001230178.1:p.His531=