Canonical Allele Identifier: CA620169918

Gene: NPRL3

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.130595A>G , CM000678.2:g.130595A>G	GRCh38
NC_000016.9:g.180594A>G , CM000678.1:g.180594A>G	GRCh37
NC_000016.8:g.120594A>G	NCBI36
NG_029669.1:g.13104T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000611875.5:c.119-4T>C MANE Select	ENSP00000478273.1:n.119-4T>C
ENST00000399953.7:c.119-4T>C	ENSP00000382834.4:n.119-4T>C
ENST00000419636.1:c.119-4T>C	ENSP00000399894.1:n.119-4T>C
ENST00000422814.5:c.36+7637T>C	ENSP00000395288.1:n.36+7637T>C
ENST00000456528.5:c.119-4T>C	ENSP00000401529.1:n.119-4T>C
ENST00000457916.5:c.37-4T>C	ENSP00000405942.1:n.37-4T>C
ENST00000468260.5:c.-292-4T>C	ENSP00000477764.1:n.-292-4T>C
ENST00000483663.5:c.118+7555T>C	ENSP00000418475.1:n.118+7555T>C
ENST00000611875.4:c.119-4T>C	ENSP00000478273.1:n.119-4T>C
ENST00000620134.4:c.119-4T>C	ENSP00000483814.1:n.119-4T>C
ENST00000621703.4:c.119-4T>C	ENSP00000477801.1:n.119-4T>C
ENST00000622194.4:c.119-4T>C	ENSP00000478045.1:n.119-4T>C
NM_001039476.2:c.-214-4T>C	NP_001034565.1:n.-214-4T>C
NM_001077350.2:c.119-4T>C	NP_001070818.1:n.119-4T>C
NM_001243247.1:c.-253-4T>C	NP_001230176.1:n.-253-4T>C
NM_001243248.1:c.119-4T>C	NP_001230177.1:n.119-4T>C
NM_001243249.1:c.119-4T>C	NP_001230178.1:n.119-4T>C
XM_011522668.1:c.119-4T>C	XP_011520970.1:n.119-4T>C
XM_011522669.1:c.119-4T>C	XP_011520971.1:n.119-4T>C
XM_011522670.1:c.119-4T>C	XP_011520972.1:n.119-4T>C
XM_011522671.1:c.119-4T>C	XP_011520973.1:n.119-4T>C
XM_011522672.1:c.119-4T>C	XP_011520974.1:n.119-4T>C
XM_011522673.1:c.119-4T>C	XP_011520975.1:n.119-4T>C
XM_011522674.1:c.119-4T>C	XP_011520976.1:n.119-4T>C
XM_011522675.1:c.-253-4T>C	XP_011520977.1:n.-253-4T>C
XM_011522677.1:c.-47+7555T>C	XP_011520979.1:n.-47+7555T>C
XM_011522678.1:c.-214-4T>C	XP_011520980.1:n.-214-4T>C
XM_011522679.1:c.-145+7555T>C	XP_011520981.1:n.-145+7555T>C
XM_011522680.1:c.-145+7555T>C	XP_011520982.1:n.-145+7555T>C
XM_011522681.1:c.-145+7555T>C	XP_011520983.1:n.-145+7555T>C
NM_001077350.3:c.119-4T>C MANE Select	NP_001070818.1:n.119-4T>C
NM_001039476.3:c.-214-4T>C	NP_001034565.1:n.-214-4T>C
NM_001243247.2:c.-253-4T>C	NP_001230176.1:n.-253-4T>C
NM_001243248.2:c.119-4T>C	NP_001230177.1:n.119-4T>C
NM_001243249.2:c.119-4T>C	NP_001230178.1:n.119-4T>C