Canonical Allele Identifier: CA500217083

Gene: NAGLU

Linked Data

• dbSNP Id: rs2092928249
• MyVariant Identifiers: chr17:g.40695620C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42543602C>T , CM000679.2:g.42543602C>T	GRCh38
NC_000017.10:g.40695620C>T , CM000679.1:g.40695620C>T	GRCh37
NC_000017.9:g.37949146C>T	NCBI36
NG_011552.1:g.12670C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.1596C>T MANE Select	ENSP00000225927.1:p.Asn532=
ENST00000225927.6:c.1596C>T	ENSP00000225927.1:p.Asn532=
ENST00000591587.1:c.934C>T	ENSP00000467836.1:n.934C>T
NM_000263.3:c.1596C>T	NP_000254.2:p.Asn532=
XM_006721920.2:c.765C>T	XP_006721983.1:p.Asn255=
XM_011524840.1:c.597C>T	XP_011523142.1:p.Asn199=
XM_017024687.1:c.765C>T	XP_016880176.1:p.Asn255=
XM_024450771.1:c.1653C>T	XP_024306539.1:p.Asn551=
XM_024450772.1:c.597C>T	XP_024306540.1:p.Asn199=
NM_000263.4:c.1596C>T MANE Select	NP_000254.2:p.Asn532=