Canonical Allele Identifier: CA500217365

Gene: NAGLU

Linked Data

• MyVariant Identifiers: chr17:g.40695801A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42543783A>C , CM000679.2:g.42543783A>C	GRCh38
NC_000017.10:g.40695801A>C , CM000679.1:g.40695801A>C	GRCh37
NC_000017.9:g.37949327A>C	NCBI36
NG_011552.1:g.12851A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.1777A>C MANE Select	ENSP00000225927.1:p.Arg593=
ENST00000225927.6:c.1777A>C	ENSP00000225927.1:p.Arg593=
ENST00000591587.1:c.1115A>C	ENSP00000467836.1:n.1115A>C
NM_000263.3:c.1777A>C	NP_000254.2:p.Arg593=
XM_006721920.2:c.946A>C	XP_006721983.1:p.Arg316=
XM_011524840.1:c.778A>C	XP_011523142.1:p.Arg260=
XM_017024687.1:c.946A>C	XP_016880176.1:p.Arg316=
XM_024450771.1:c.1834A>C	XP_024306539.1:p.Arg612=
XM_024450772.1:c.778A>C	XP_024306540.1:p.Arg260=
NM_000263.4:c.1777A>C MANE Select	NP_000254.2:p.Arg593=