Canonical Allele Identifier: CA399604747

Gene: NAGLU

Linked Data

• MyVariant Identifiers: chr17:g.40695777A>G (hg19) ; chr17:g.42543759A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42543759A>G , CM000679.2:g.42543759A>G	GRCh38
NC_000017.10:g.40695777A>G , CM000679.1:g.40695777A>G	GRCh37
NC_000017.9:g.37949303A>G	NCBI36
NG_011552.1:g.12827A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.1753A>G MANE Select	ENSP00000225927.1:p.Ser585Gly
ENST00000225927.6:c.1753A>G	ENSP00000225927.1:p.Ser585Gly
ENST00000591587.1:c.1091A>G	ENSP00000467836.1:n.1091A>G
NM_000263.3:c.1753A>G	NP_000254.2:p.Ser585Gly
XM_006721920.2:c.922A>G	XP_006721983.1:p.Ser308Gly
XM_011524840.1:c.754A>G	XP_011523142.1:p.Ser252Gly
XM_017024687.1:c.922A>G	XP_016880176.1:p.Ser308Gly
XM_024450771.1:c.1810A>G	XP_024306539.1:p.Ser604Gly
XM_024450772.1:c.754A>G	XP_024306540.1:p.Ser252Gly
NM_000263.4:c.1753A>G MANE Select	NP_000254.2:p.Ser585Gly