Canonical Allele Identifier: CA500218143

Gene: NAGLU

Linked Data

• dbSNP Id: rs1386169435
• gnomAD v2: 17-40696217-C-T
• MyVariant Identifiers: chr17:g.40696217C>T (hg19) ; chr17:g.42544199C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42544199C>T , CM000679.2:g.42544199C>T	GRCh38
NC_000017.10:g.40696217C>T , CM000679.1:g.40696217C>T	GRCh37
NC_000017.9:g.37949743C>T	NCBI36
NG_011552.1:g.13267C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.2193C>T MANE Select	ENSP00000225927.1:p.Phe731=
ENST00000225927.6:c.2193C>T	ENSP00000225927.1:p.Phe731=
NM_000263.3:c.2193C>T	NP_000254.2:p.Phe731=
XM_006721920.2:c.1362C>T	XP_006721983.1:p.Phe454=
XM_011524840.1:c.1194C>T	XP_011523142.1:p.Phe398=
XM_017024687.1:c.1362C>T	XP_016880176.1:p.Phe454=
XM_024450771.1:c.2250C>T	XP_024306539.1:p.Phe750=
XM_024450772.1:c.1194C>T	XP_024306540.1:p.Phe398=
NM_000263.4:c.2193C>T MANE Select	NP_000254.2:p.Phe731=