Canonical Allele Identifier: CA8576842
Gene: NAGLU HGNC NCBI

Linked Data

ClinVar Variation Id: 1581070
ClinVar RCV Id: RCV002095005
dbSNP Id: rs760463334
ExAC: 17:40690750 G / C
gnomAD v2: 17-40690750-G-C
gnomAD v3: 17-42538732-G-C
gnomAD v4: 17-42538732-G-C
MyVariant Identifiers: chr17:g.40690750G>C (hg19) chr17:g.42538732G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42538732G>C , CM000679.2:g.42538732G>C GRCh38
NC_000017.10:g.40690750G>C , CM000679.1:g.40690750G>C GRCh37
NC_000017.9:g.37944276G>C NCBI36
NG_011552.1:g.7800G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000225927.7:c.741G>C MANE Select ENSP00000225927.1:p.Gly247=
ENST00000225927.6:c.741G>C ENSP00000225927.1:p.Gly247=
ENST00000586516.5:c.343G>C
ENST00000591587.1:c.336G>C ENSP00000467836.1:p.Gly112=
NM_000263.3:c.741G>C NP_000254.2:p.Gly247=
XM_006721920.2:c.-2G>C XP_006721983.1:n.-2G>C
XM_011524840.1:c.-2G>C XP_011523142.1:n.-2G>C
XM_017024687.1:c.-2G>C XP_016880176.1:n.-2G>C
XM_024450771.1:c.798G>C XP_024306539.1:p.Gly266=
XM_024450772.1:c.-2G>C XP_024306540.1:n.-2G>C
NM_000263.4:c.741G>C MANE Select NP_000254.2:p.Gly247=
Search 100 bp 5'
Search 100 bp 3'