Canonical Allele Identifier: CA399606074

Gene: NAGLU

Linked Data

• ClinVar Variation Id: 1498301
• ClinVar RCV Id: RCV001996513
• dbSNP Id: rs143906118
• gnomAD v2: 17-40696092-A-T
• gnomAD v4: 17-42544074-A-T
• MyVariant Identifiers: chr17:g.40696092A>T (hg19) ; chr17:g.42544074A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42544074A>T , CM000679.2:g.42544074A>T	GRCh38
NC_000017.10:g.40696092A>T , CM000679.1:g.40696092A>T	GRCh37
NC_000017.9:g.37949618A>T	NCBI36
NG_011552.1:g.13142A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.2068A>T MANE Select	ENSP00000225927.1:p.Ile690Phe
ENST00000225927.6:c.2068A>T	ENSP00000225927.1:p.Ile690Phe
ENST00000591587.1:c.1406A>T	ENSP00000467836.1:n.1406A>T
NM_000263.3:c.2068A>T	NP_000254.2:p.Ile690Phe
XM_006721920.2:c.1237A>T	XP_006721983.1:p.Ile413Phe
XM_011524840.1:c.1069A>T	XP_011523142.1:p.Ile357Phe
XM_017024687.1:c.1237A>T	XP_016880176.1:p.Ile413Phe
XM_024450771.1:c.2125A>T	XP_024306539.1:p.Ile709Phe
XM_024450772.1:c.1069A>T	XP_024306540.1:p.Ile357Phe
NM_000263.4:c.2068A>T MANE Select	NP_000254.2:p.Ile690Phe