Canonical Allele Identifier: CA145929
Gene: NAGLU HGNC NCBI

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)
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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
Search 100 bp 5'
Search 100 bp 3'