Canonical Allele Identifier: CA399606492

Gene: NAGLU

Linked Data

• dbSNP Id: rs2092931100
• gnomAD v4: 17-42544220-G-T
• MyVariant Identifiers: chr17:g.40696238G>T (hg19) ; chr17:g.42544220G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42544220G>T , CM000679.2:g.42544220G>T	GRCh38
NC_000017.10:g.40696238G>T , CM000679.1:g.40696238G>T	GRCh37
NC_000017.9:g.37949764G>T	NCBI36
NG_011552.1:g.13288G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.2214G>T MANE Select	ENSP00000225927.1:p.Trp738Cys
ENST00000225927.6:c.2214G>T	ENSP00000225927.1:p.Trp738Cys
NM_000263.3:c.2214G>T	NP_000254.2:p.Trp738Cys
XM_006721920.2:c.1383G>T	XP_006721983.1:p.Trp461Cys
XM_011524840.1:c.1215G>T	XP_011523142.1:p.Trp405Cys
XM_017024687.1:c.1383G>T	XP_016880176.1:p.Trp461Cys
XM_024450771.1:c.2271G>T	XP_024306539.1:p.Trp757Cys
XM_024450772.1:c.1215G>T	XP_024306540.1:p.Trp405Cys
NM_000263.4:c.2214G>T MANE Select	NP_000254.2:p.Trp738Cys