Canonical Allele Identifier: CA290778808

Gene: NAGLU

Linked Data

• ClinVar Variation Id: 553204
• ClinVar RCV Id: RCV000668600 ; RCV001030806 ; RCV001378697
• dbSNP Id: rs749140168
• gnomAD v4: 17-42541185-G-T
• MyVariant Identifiers: chr17:g.40693203G>T (hg19) ; chr17:g.42541185G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42541185G>T , CM000679.2:g.42541185G>T	GRCh38
NC_000017.10:g.40693203G>T , CM000679.1:g.40693203G>T	GRCh37
NC_000017.9:g.37946729G>T	NCBI36
NG_011552.1:g.10253G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.1000G>T MANE Select	ENSP00000225927.1:p.Val334Phe
ENST00000225927.6:c.1000G>T	ENSP00000225927.1:p.Val334Phe
ENST00000591587.1:c.360-1843G>T	ENSP00000467836.1:n.360-1843G>T
ENST00000592454.1:c.95G>T
NM_000263.3:c.1000G>T	NP_000254.2:p.Val334Phe
XM_006721920.2:c.169G>T	XP_006721983.1:p.Val57Phe
XM_011524840.1:c.23-1843G>T	XP_011523142.1:n.23-1843G>T
XM_017024687.1:c.169G>T	XP_016880176.1:p.Val57Phe
XM_024450771.1:c.1057G>T	XP_024306539.1:p.Val353Phe
XM_024450772.1:c.23-1843G>T	XP_024306540.1:n.23-1843G>T
NM_000263.4:c.1000G>T MANE Select	NP_000254.2:p.Val334Phe