Canonical Allele Identifier: CA500216899

Gene: NAGLU

Linked Data

• dbSNP Id: rs1599260850
• MyVariant Identifiers: chr17:g.40695380A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42543362A>G , CM000679.2:g.42543362A>G	GRCh38
NC_000017.10:g.40695380A>G , CM000679.1:g.40695380A>G	GRCh37
NC_000017.9:g.37948906A>G	NCBI36
NG_011552.1:g.12430A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.1356A>G MANE Select	ENSP00000225927.1:p.Glu452=
ENST00000225927.6:c.1356A>G	ENSP00000225927.1:p.Glu452=
ENST00000591587.1:c.694A>G	ENSP00000467836.1:n.694A>G
ENST00000592454.1:c.395A>G
NM_000263.3:c.1356A>G	NP_000254.2:p.Glu452=
XM_006721920.2:c.525A>G	XP_006721983.1:p.Glu175=
XM_011524840.1:c.357A>G	XP_011523142.1:p.Glu119=
XM_017024687.1:c.525A>G	XP_016880176.1:p.Glu175=
XM_024450771.1:c.1413A>G	XP_024306539.1:p.Glu471=
XM_024450772.1:c.357A>G	XP_024306540.1:p.Glu119=
NM_000263.4:c.1356A>G MANE Select	NP_000254.2:p.Glu452=