Canonical Allele Identifier: CA399604139

Gene: NAGLU

Linked Data

• ClinVar Variation Id: 2096708
• ClinVar RCV Id: RCV003028286
• MyVariant Identifiers: chr17:g.40695567A>G (hg19) ; chr17:g.42543549A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42543549A>G , CM000679.2:g.42543549A>G	GRCh38
NC_000017.10:g.40695567A>G , CM000679.1:g.40695567A>G	GRCh37
NC_000017.9:g.37949093A>G	NCBI36
NG_011552.1:g.12617A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.1543A>G MANE Select	ENSP00000225927.1:p.Ser515Gly
ENST00000225927.6:c.1543A>G	ENSP00000225927.1:p.Ser515Gly
ENST00000591587.1:c.881A>G	ENSP00000467836.1:n.881A>G
ENST00000592454.1:c.582A>G
NM_000263.3:c.1543A>G	NP_000254.2:p.Ser515Gly
XM_006721920.2:c.712A>G	XP_006721983.1:p.Ser238Gly
XM_011524840.1:c.544A>G	XP_011523142.1:p.Ser182Gly
XM_017024687.1:c.712A>G	XP_016880176.1:p.Ser238Gly
XM_024450771.1:c.1600A>G	XP_024306539.1:p.Ser534Gly
XM_024450772.1:c.544A>G	XP_024306540.1:p.Ser182Gly
NM_000263.4:c.1543A>G MANE Select	NP_000254.2:p.Ser515Gly