Canonical Allele Identifier: CA8577162
Gene: NAGLU HGNC NCBI

Linked Data

ClinVar Variation Id: 1597199
ClinVar RCV Id: RCV002127141
dbSNP Id: rs750668298
ExAC: 17:40696242 G / C
gnomAD v2: 17-40696242-G-C
gnomAD v3: 17-42544224-G-C
gnomAD v4: 17-42544224-G-C
MyVariant Identifiers: chr17:g.40696242G>C (hg19) chr17:g.42544224G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42544224G>C , CM000679.2:g.42544224G>C GRCh38
NC_000017.10:g.40696242G>C , CM000679.1:g.40696242G>C GRCh37
NC_000017.9:g.37949768G>C NCBI36
NG_011552.1:g.13292G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000225927.7:c.2218G>C MANE Select ENSP00000225927.1:p.Ala740Pro
ENST00000225927.6:c.2218G>C ENSP00000225927.1:p.Ala740Pro
NM_000263.3:c.2218G>C NP_000254.2:p.Ala740Pro
XM_006721920.2:c.1387G>C XP_006721983.1:p.Ala463Pro
XM_011524840.1:c.1219G>C XP_011523142.1:p.Ala407Pro
XM_017024687.1:c.1387G>C XP_016880176.1:p.Ala463Pro
XM_024450771.1:c.2275G>C XP_024306539.1:p.Ala759Pro
XM_024450772.1:c.1219G>C XP_024306540.1:p.Ala407Pro
NM_000263.4:c.2218G>C MANE Select NP_000254.2:p.Ala740Pro
Search 100 bp 5'
Search 100 bp 3'