Canonical Allele Identifier: CA1259100602

Gene: NFU1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.69415306A>G , CM000664.2:g.69415306A>G	GRCh38
NC_000002.11:g.69642438A>G , CM000664.1:g.69642438A>G	GRCh37
NC_000002.10:g.69495942A>G	NCBI36
NG_031931.1:g.27323T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001002755.4:c.370-7T>C MANE Select	NP_001002755.1:n.370-7T>C
ENST00000410022.7:c.370-7T>C MANE Select	ENSP00000387219.3:n.370-7T>C
NM_001002755.2:c.370-7T>C	NP_001002755.1:n.370-7T>C
NM_001002756.2:c.-54-7T>C	NP_001002756.1:n.-54-7T>C
NM_001374284.1:c.298-7T>C	NP_001361213.1:n.298-7T>C
NM_015700.3:c.298-7T>C	NP_056515.2:n.298-7T>C
NM_015700.4:c.298-7T>C	NP_056515.2:n.298-7T>C
NR_045631.1:n.440-7T>C
NR_045631.2:n.247-7T>C
NR_045632.1:n.440-7T>C
NR_045632.2:n.247-7T>C
ENST00000303698.7:c.298-7T>C	ENSP00000306965.3:n.298-7T>C
ENST00000394305.5:c.-54-7T>C	ENSP00000377842.1:n.-54-7T>C
ENST00000410022.6:c.370-7T>C	ENSP00000387219.2:n.370-7T>C
ENST00000419370.5:c.*287-7T>C	ENSP00000405495.1:n.*287-7T>C
ENST00000438184.2:c.*42-7T>C	ENSP00000393338.2:n.*42-7T>C
ENST00000450796.6:c.-54-7T>C	ENSP00000415102.2:n.-54-7T>C
ENST00000462320.5:c.-54-7T>C	ENSP00000418598.1:n.-54-7T>C
ENST00000471185.5:n.247-7T>C
ENST00000484177.5:c.-54-7T>C	ENSP00000417693.1:n.-54-7T>C
XM_017003808.2:c.298-7T>C	XP_016859297.1:n.298-7T>C