Canonical Allele Identifier: CA115045

Gene: NAGLU

Linked Data - Predicted Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42541074C>T , CM000679.2:g.42541074C>T	GRCh38
NC_000017.10:g.40693092C>T , CM000679.1:g.40693092C>T	GRCh37
NC_000017.9:g.37946618C>T	NCBI36
NG_011552.1:g.10142C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.889C>T MANE Select	ENSP00000225927.1:p.Arg297Ter
ENST00000225927.6:c.889C>T	ENSP00000225927.1:p.Arg297Ter
ENST00000586516.5:c.491C>T
ENST00000591587.1:c.360-1954C>T	ENSP00000467836.1:n.360-1954C>T
NM_000263.3:c.889C>T	NP_000254.2:p.Arg297Ter
XM_006721920.2:c.58C>T	XP_006721983.1:p.Arg20Ter
XM_011524840.1:c.23-1954C>T	XP_011523142.1:n.23-1954C>T
XM_017024687.1:c.58C>T	XP_016880176.1:p.Arg20Ter
XM_024450771.1:c.946C>T	XP_024306539.1:p.Arg316Ter
XM_024450772.1:c.23-1954C>T	XP_024306540.1:n.23-1954C>T
NM_000263.4:c.889C>T MANE Select	NP_000254.2:p.Arg297Ter