Canonical Allele Identifier: CA500217035

Gene: NAGLU

Linked Data

• ClinVar Variation Id: 1150504
• ClinVar RCV Id: RCV001491138
• dbSNP Id: rs2143111531
• MyVariant Identifiers: chr17:g.40695563T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42543545T>C , CM000679.2:g.42543545T>C	GRCh38
NC_000017.10:g.40695563T>C , CM000679.1:g.40695563T>C	GRCh37
NC_000017.9:g.37949089T>C	NCBI36
NG_011552.1:g.12613T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.1539T>C MANE Select	ENSP00000225927.1:p.Asn513=
ENST00000225927.6:c.1539T>C	ENSP00000225927.1:p.Asn513=
ENST00000591587.1:c.877T>C	ENSP00000467836.1:n.877T>C
ENST00000592454.1:c.578T>C
NM_000263.3:c.1539T>C	NP_000254.2:p.Asn513=
XM_006721920.2:c.708T>C	XP_006721983.1:p.Asn236=
XM_011524840.1:c.540T>C	XP_011523142.1:p.Asn180=
XM_017024687.1:c.708T>C	XP_016880176.1:p.Asn236=
XM_024450771.1:c.1596T>C	XP_024306539.1:p.Asn532=
XM_024450772.1:c.540T>C	XP_024306540.1:p.Asn180=
NM_000263.4:c.1539T>C MANE Select	NP_000254.2:p.Asn513=