Canonical Allele Identifier: CA115043

Gene: NAGLU

Linked Data - Predicted Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42543882C>T , CM000679.2:g.42543882C>T	GRCh38
NC_000017.10:g.40695900C>T , CM000679.1:g.40695900C>T	GRCh37
NC_000017.9:g.37949426C>T	NCBI36
NG_011552.1:g.12950C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.1876C>T MANE Select	ENSP00000225927.1:p.Arg626Ter
ENST00000225927.6:c.1876C>T	ENSP00000225927.1:p.Arg626Ter
ENST00000591587.1:c.1214C>T	ENSP00000467836.1:n.1214C>T
NM_000263.3:c.1876C>T	NP_000254.2:p.Arg626Ter
XM_006721920.2:c.1045C>T	XP_006721983.1:p.Arg349Ter
XM_011524840.1:c.877C>T	XP_011523142.1:p.Arg293Ter
XM_017024687.1:c.1045C>T	XP_016880176.1:p.Arg349Ter
XM_024450771.1:c.1933C>T	XP_024306539.1:p.Arg645Ter
XM_024450772.1:c.877C>T	XP_024306540.1:p.Arg293Ter
NM_000263.4:c.1876C>T MANE Select	NP_000254.2:p.Arg626Ter