Canonical Allele Identifier: CA8577119

Gene: NAGLU

Linked Data

• ClinVar Variation Id: 323305
• ClinVar RCV Id: RCV000365725 ; RCV002522964
• dbSNP Id: rs375068243
• ExAC: 17:40695930 G / A
• gnomAD v2: 17-40695930-G-A
• gnomAD v3: 17-42543912-G-A
• gnomAD v4: 17-42543912-G-A
• MyVariant Identifiers: chr17:g.40695930G>A (hg19) ; chr17:g.42543912G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42543912G>A , CM000679.2:g.42543912G>A	GRCh38
NC_000017.10:g.40695930G>A , CM000679.1:g.40695930G>A	GRCh37
NC_000017.9:g.37949456G>A	NCBI36
NG_011552.1:g.12980G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.1906G>A MANE Select	ENSP00000225927.1:p.Asp636Asn
ENST00000225927.6:c.1906G>A	ENSP00000225927.1:p.Asp636Asn
ENST00000591587.1:c.1244G>A	ENSP00000467836.1:n.1244G>A
NM_000263.3:c.1906G>A	NP_000254.2:p.Asp636Asn
XM_006721920.2:c.1075G>A	XP_006721983.1:p.Asp359Asn
XM_011524840.1:c.907G>A	XP_011523142.1:p.Asp303Asn
XM_017024687.1:c.1075G>A	XP_016880176.1:p.Asp359Asn
XM_024450771.1:c.1963G>A	XP_024306539.1:p.Asp655Asn
XM_024450772.1:c.907G>A	XP_024306540.1:p.Asp303Asn
NM_000263.4:c.1906G>A MANE Select	NP_000254.2:p.Asp636Asn