Canonical Allele Identifier: CA145927

Gene: NAGLU

Linked Data

• ClinVar Variation Id: 92692
• ClinVar RCV Id: RCV000078456 ; RCV000604099 ; RCV000675734 ; RCV001516235
• dbSNP Id: rs86312
• ExAC: 17:40696233 C / A
• gnomAD v2: 17-40696233-C-A
• gnomAD v3: 17-42544215-C-A
• gnomAD v4: 17-42544215-C-A
• MyVariant Identifiers: chr17:g.40696233C>A (hg19) ; chr17:g.42544215C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42544215C>A , CM000679.2:g.42544215C>A	GRCh38
NC_000017.10:g.40696233C>A , CM000679.1:g.40696233C>A	GRCh37
NC_000017.9:g.37949759C>A	NCBI36
NG_011552.1:g.13283C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.2209C>A MANE Select	ENSP00000225927.1:p.Arg737Ser
ENST00000225927.6:c.2209C>A	ENSP00000225927.1:p.Arg737Ser
NM_000263.3:c.2209C>A	NP_000254.2:p.Arg737Ser
XM_006721920.2:c.1378C>A	XP_006721983.1:p.Arg460Ser
XM_011524840.1:c.1210C>A	XP_011523142.1:p.Arg404Ser
XM_017024687.1:c.1378C>A	XP_016880176.1:p.Arg460Ser
XM_024450771.1:c.2266C>A	XP_024306539.1:p.Arg756Ser
XM_024450772.1:c.1210C>A	XP_024306540.1:p.Arg404Ser
NM_000263.4:c.2209C>A MANE Select	NP_000254.2:p.Arg737Ser