Canonical Allele Identifier: CA500215875
Gene: NAGLU HGNC NCBI

Linked Data

ClinVar Variation Id: 1081540
ClinVar RCV Id: RCV001397547
dbSNP Id: rs2092906079
gnomAD v3: 17-42536386-G-C
gnomAD v4: 17-42536386-G-C
MyVariant Identifiers: chr17:g.40688404G>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42536386G>C , CM000679.2:g.42536386G>C GRCh38
NC_000017.10:g.40688404G>C , CM000679.1:g.40688404G>C GRCh37
NC_000017.9:g.37941930G>C NCBI36
NG_011552.1:g.5454G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000225927.7:c.114G>C MANE Select ENSP00000225927.1:p.Arg38=
ENST00000225927.6:c.114G>C ENSP00000225927.1:p.Arg38=
NM_000263.3:c.114G>C NP_000254.2:p.Arg38=
XM_024450771.1:c.114G>C XP_024306539.1:p.Arg38=
NM_000263.4:c.114G>C MANE Select NP_000254.2:p.Arg38=
Search 100 bp 5'
Search 100 bp 3'