Canonical Allele Identifier: CA290781252
Gene: NAGLU HGNC NCBI

Linked Data

ClinVar Variation Id: 1662451
ClinVar RCV Id: RCV002185742
dbSNP Id: rs114687267
gnomAD v4: 17-42544163-G-T
MyVariant Identifiers: chr17:g.40696181G>T (hg19) chr17:g.42544163G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42544163G>T , CM000679.2:g.42544163G>T GRCh38
NC_000017.10:g.40696181G>T , CM000679.1:g.40696181G>T GRCh37
NC_000017.9:g.37949707G>T NCBI36
NG_011552.1:g.13231G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000225927.7:c.2157G>T MANE Select ENSP00000225927.1:p.Pro719=
ENST00000225927.6:c.2157G>T ENSP00000225927.1:p.Pro719=
NM_000263.3:c.2157G>T NP_000254.2:p.Pro719=
XM_006721920.2:c.1326G>T XP_006721983.1:p.Pro442=
XM_011524840.1:c.1158G>T XP_011523142.1:p.Pro386=
XM_017024687.1:c.1326G>T XP_016880176.1:p.Pro442=
XM_024450771.1:c.2214G>T XP_024306539.1:p.Pro738=
XM_024450772.1:c.1158G>T XP_024306540.1:p.Pro386=
NM_000263.4:c.2157G>T MANE Select NP_000254.2:p.Pro719=
Search 100 bp 5'
Search 100 bp 3'