Canonical Allele Identifier: CA8577125
Gene: NAGLU HGNC NCBI

Linked Data

ClinVar Variation Id: 2929124
ClinVar RCV Id: RCV003781850
dbSNP Id: rs527236038
ExAC: 17:40695970 G / C
gnomAD v2: 17-40695970-G-C
gnomAD v4: 17-42543952-G-C
MyVariant Identifiers: chr17:g.40695970G>C (hg19) chr17:g.42543952G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42543952G>C , CM000679.2:g.42543952G>C GRCh38
NC_000017.10:g.40695970G>C , CM000679.1:g.40695970G>C GRCh37
NC_000017.9:g.37949496G>C NCBI36
NG_011552.1:g.13020G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000225927.7:c.1946G>C MANE Select ENSP00000225927.1:p.Trp649Ser
ENST00000225927.6:c.1946G>C ENSP00000225927.1:p.Trp649Ser
ENST00000591587.1:c.1284G>C ENSP00000467836.1:n.1284G>C
NM_000263.3:c.1946G>C NP_000254.2:p.Trp649Ser
XM_006721920.2:c.1115G>C XP_006721983.1:p.Trp372Ser
XM_011524840.1:c.947G>C XP_011523142.1:p.Trp316Ser
XM_017024687.1:c.1115G>C XP_016880176.1:p.Trp372Ser
XM_024450771.1:c.2003G>C XP_024306539.1:p.Trp668Ser
XM_024450772.1:c.947G>C XP_024306540.1:p.Trp316Ser
NM_000263.4:c.1946G>C MANE Select NP_000254.2:p.Trp649Ser
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Search 100 bp 3'