Canonical Allele Identifier: CA399606572
Gene: NAGLU HGNC NCBI

Linked Data

ClinVar Variation Id: 556946
ClinVar RCV Id: RCV000673016 RCV002532140
dbSNP Id: rs1555622606
gnomAD v4: 17-42544238-A-G
MyVariant Identifiers: chr17:g.40696256A>G (hg19) chr17:g.42544238A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42544238A>G , CM000679.2:g.42544238A>G GRCh38
NC_000017.10:g.40696256A>G , CM000679.1:g.40696256A>G GRCh37
NC_000017.9:g.37949782A>G NCBI36
NG_011552.1:g.13306A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000225927.7:c.2232A>G MANE Select ENSP00000225927.1:p.Ter744Trp
ENST00000225927.6:c.2232A>G ENSP00000225927.1:p.Ter744Trp
NM_000263.3:c.2232A>G NP_000254.2:p.Ter744Trp
XM_006721920.2:c.1401A>G XP_006721983.1:p.Ter467Trp
XM_011524840.1:c.1233A>G XP_011523142.1:p.Ter411Trp
XM_017024687.1:c.1401A>G XP_016880176.1:p.Ter467Trp
XM_024450771.1:c.2289A>G XP_024306539.1:p.Ter763Trp
XM_024450772.1:c.1233A>G XP_024306540.1:p.Ter411Trp
NM_000263.4:c.2232A>G MANE Select NP_000254.2:p.Ter744Trp
Search 100 bp 5'
Search 100 bp 3'