Canonical Allele Identifier: CA399606037

Gene: NAGLU

Linked Data

• ClinVar Variation Id: 2016110
• ClinVar RCV Id: RCV002843733
• dbSNP Id: rs1422268859
• gnomAD v3: 17-42544065-G-A
• gnomAD v4: 17-42544065-G-A
• MyVariant Identifiers: chr17:g.40696083G>A (hg19) ; chr17:g.42544065G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42544065G>A , CM000679.2:g.42544065G>A	GRCh38
NC_000017.10:g.40696083G>A , CM000679.1:g.40696083G>A	GRCh37
NC_000017.9:g.37949609G>A	NCBI36
NG_011552.1:g.13133G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.2059G>A MANE Select	ENSP00000225927.1:p.Ala687Thr
ENST00000225927.6:c.2059G>A	ENSP00000225927.1:p.Ala687Thr
ENST00000591587.1:c.1397G>A	ENSP00000467836.1:n.1397G>A
NM_000263.3:c.2059G>A	NP_000254.2:p.Ala687Thr
XM_006721920.2:c.1228G>A	XP_006721983.1:p.Ala410Thr
XM_011524840.1:c.1060G>A	XP_011523142.1:p.Ala354Thr
XM_017024687.1:c.1228G>A	XP_016880176.1:p.Ala410Thr
XM_024450771.1:c.2116G>A	XP_024306539.1:p.Ala706Thr
XM_024450772.1:c.1060G>A	XP_024306540.1:p.Ala354Thr
NM_000263.4:c.2059G>A MANE Select	NP_000254.2:p.Ala687Thr