Canonical Allele Identifier: CA145929

Gene: NAGLU

Linked Data

• ClinVar Variation Id: 92693
• ClinVar RCV Id: RCV000078457 ; RCV000588373 ; RCV000609064 ; RCV001523208 ; RCV001778706
• dbSNP Id: rs86312
• ExAC: 17:40696233 C / G
• gnomAD v2: 17-40696233-C-G
• gnomAD v3: 17-42544215-C-G
• gnomAD v4: 17-42544215-C-G
• MyVariant Identifiers: chr17:g.40696233C>G (hg19) ; chr17:g.42544215C>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.2209C>G MANE Select	ENSP00000225927.1:p.Arg737Gly
ENST00000225927.6:c.2209C>G	ENSP00000225927.1:p.Arg737Gly
NM_000263.3:c.2209C>G	NP_000254.2:p.Arg737Gly
XM_006721920.2:c.1378C>G	XP_006721983.1:p.Arg460Gly
XM_011524840.1:c.1210C>G	XP_011523142.1:p.Arg404Gly
XM_017024687.1:c.1378C>G	XP_016880176.1:p.Arg460Gly
XM_024450771.1:c.2266C>G	XP_024306539.1:p.Arg756Gly
XM_024450772.1:c.1210C>G	XP_024306540.1:p.Arg404Gly
NM_000263.4:c.2209C>G MANE Select	NP_000254.2:p.Arg737Gly