Canonical Allele Identifier: CA500216940

Gene: NAGLU

Linked Data

• dbSNP Id: rs2092927175
• MyVariant Identifiers: chr17:g.40695440A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42543422A>G , CM000679.2:g.42543422A>G	GRCh38
NC_000017.10:g.40695440A>G , CM000679.1:g.40695440A>G	GRCh37
NC_000017.9:g.37948966A>G	NCBI36
NG_011552.1:g.12490A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000225927.7:c.1416A>G MANE Select	ENSP00000225927.1:p.Ala472=
ENST00000225927.6:c.1416A>G	ENSP00000225927.1:p.Ala472=
ENST00000591587.1:c.754A>G	ENSP00000467836.1:n.754A>G
ENST00000592454.1:c.455A>G
NM_000263.3:c.1416A>G	NP_000254.2:p.Ala472=
XM_006721920.2:c.585A>G	XP_006721983.1:p.Ala195=
XM_011524840.1:c.417A>G	XP_011523142.1:p.Ala139=
XM_017024687.1:c.585A>G	XP_016880176.1:p.Ala195=
XM_024450771.1:c.1473A>G	XP_024306539.1:p.Ala491=
XM_024450772.1:c.417A>G	XP_024306540.1:p.Ala139=
NM_000263.4:c.1416A>G MANE Select	NP_000254.2:p.Ala472=