Canonical Allele Identifier: CA8576920

Gene: NAGLU

Linked Data

• dbSNP Id: rs749198686
• ExAC: 17:40693232 G / A
• gnomAD v2: 17-40693232-G-A
• gnomAD v4: 17-42541214-G-A
• MyVariant Identifiers: chr17:g.40693232G>A (hg19) ; chr17:g.42541214G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42541214G>A , CM000679.2:g.42541214G>A	GRCh38
NC_000017.10:g.40693232G>A , CM000679.1:g.40693232G>A	GRCh37
NC_000017.9:g.37946758G>A	NCBI36
NG_011552.1:g.10282G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.1021+8G>A MANE Select	ENSP00000225927.1:n.1021+8G>A
ENST00000225927.6:c.1021+8G>A	ENSP00000225927.1:n.1021+8G>A
ENST00000591587.1:c.360-1814G>A	ENSP00000467836.1:n.360-1814G>A
ENST00000592454.1:c.116+8G>A
NM_000263.3:c.1021+8G>A	NP_000254.2:n.1021+8G>A
XM_006721920.2:c.190+8G>A	XP_006721983.1:n.190+8G>A
XM_011524840.1:c.23-1814G>A	XP_011523142.1:n.23-1814G>A
XM_017024687.1:c.190+8G>A	XP_016880176.1:n.190+8G>A
XM_024450771.1:c.1078+8G>A	XP_024306539.1:n.1078+8G>A
XM_024450772.1:c.23-1814G>A	XP_024306540.1:n.23-1814G>A
NM_000263.4:c.1021+8G>A MANE Select	NP_000254.2:n.1021+8G>A