Canonical Allele Identifier: CA500218116

Gene: NAGLU

Linked Data

• MyVariant Identifiers: chr17:g.40696214C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42544196C>A , CM000679.2:g.42544196C>A	GRCh38
NC_000017.10:g.40696214C>A , CM000679.1:g.40696214C>A	GRCh37
NC_000017.9:g.37949740C>A	NCBI36
NG_011552.1:g.13264C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.2190C>A MANE Select	ENSP00000225927.1:p.Ile730=
ENST00000225927.6:c.2190C>A	ENSP00000225927.1:p.Ile730=
NM_000263.3:c.2190C>A	NP_000254.2:p.Ile730=
XM_006721920.2:c.1359C>A	XP_006721983.1:p.Ile453=
XM_011524840.1:c.1191C>A	XP_011523142.1:p.Ile397=
XM_017024687.1:c.1359C>A	XP_016880176.1:p.Ile453=
XM_024450771.1:c.2247C>A	XP_024306539.1:p.Ile749=
XM_024450772.1:c.1191C>A	XP_024306540.1:p.Ile397=
NM_000263.4:c.2190C>A MANE Select	NP_000254.2:p.Ile730=