Canonical Allele Identifier: CA500217003

Gene: NAGLU

Linked Data

• MyVariant Identifiers: chr17:g.40695512A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42543494A>T , CM000679.2:g.42543494A>T	GRCh38
NC_000017.10:g.40695512A>T , CM000679.1:g.40695512A>T	GRCh37
NC_000017.9:g.37949038A>T	NCBI36
NG_011552.1:g.12562A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.1488A>T MANE Select	ENSP00000225927.1:p.Leu496=
ENST00000225927.6:c.1488A>T	ENSP00000225927.1:p.Leu496=
ENST00000591587.1:c.826A>T	ENSP00000467836.1:n.826A>T
ENST00000592454.1:c.527A>T
NM_000263.3:c.1488A>T	NP_000254.2:p.Leu496=
XM_006721920.2:c.657A>T	XP_006721983.1:p.Leu219=
XM_011524840.1:c.489A>T	XP_011523142.1:p.Leu163=
XM_017024687.1:c.657A>T	XP_016880176.1:p.Leu219=
XM_024450771.1:c.1545A>T	XP_024306539.1:p.Leu515=
XM_024450772.1:c.489A>T	XP_024306540.1:p.Leu163=
NM_000263.4:c.1488A>T MANE Select	NP_000254.2:p.Leu496=