Canonical Allele Identifier: CA399606317

Gene: NAGLU

Linked Data

• dbSNP Id: rs1320810357
• gnomAD v2: 17-40696197-G-A
• gnomAD v3: 17-42544179-G-A
• gnomAD v4: 17-42544179-G-A
• MyVariant Identifiers: chr17:g.40696197G>A (hg19) ; chr17:g.42544179G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42544179G>A , CM000679.2:g.42544179G>A	GRCh38
NC_000017.10:g.40696197G>A , CM000679.1:g.40696197G>A	GRCh37
NC_000017.9:g.37949723G>A	NCBI36
NG_011552.1:g.13247G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.2173G>A MANE Select	ENSP00000225927.1:p.Asp725Asn
ENST00000225927.6:c.2173G>A	ENSP00000225927.1:p.Asp725Asn
NM_000263.3:c.2173G>A	NP_000254.2:p.Asp725Asn
XM_006721920.2:c.1342G>A	XP_006721983.1:p.Asp448Asn
XM_011524840.1:c.1174G>A	XP_011523142.1:p.Asp392Asn
XM_017024687.1:c.1342G>A	XP_016880176.1:p.Asp448Asn
XM_024450771.1:c.2230G>A	XP_024306539.1:p.Asp744Asn
XM_024450772.1:c.1174G>A	XP_024306540.1:p.Asp392Asn
NM_000263.4:c.2173G>A MANE Select	NP_000254.2:p.Asp725Asn