Canonical Allele Identifier: CA220552
Gene: NAGLU HGNC NCBI
MyVariant.info:
GRCh38 chr17:g.42543370A>G
GRCh37 chr17:g.40695388A>G
Revel Score:
ENST00000225927 (MANE Select) 0.978
ENST00000377405 0.978
gnomAD v2:
17:40695388 A / G
gnomAD v4:
chr17-42543370-A-G
Joint Max Group AF 0.00002261 (AMR)
Exomes Max Group AF 0.00002996 (AMR)
ClinVar Allele:
98598
ClinVar RCV:
RCV000078454
RCV001854380
ClinVar Variation:
92691
dbSNP:
375103824
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42543370A>G , CM000679.2:g.42543370A>G GRCh38
NC_000017.10:g.40695388A>G , CM000679.1:g.40695388A>G GRCh37
NC_000017.9:g.37948914A>G NCBI36
NG_011552.1:g.12438A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000225927.7:c.1364A>G MANE Select ENSP00000225927.1:p.Tyr455Cys
ENST00000225927.6:c.1364A>G ENSP00000225927.1:p.Tyr455Cys
ENST00000591587.1:c.702A>G ENSP00000467836.1:n.702A>G
ENST00000592454.1:c.403A>G
NM_000263.3:c.1364A>G NP_000254.2:p.Tyr455Cys
XM_006721920.2:c.533A>G XP_006721983.1:p.Tyr178Cys
XM_011524840.1:c.365A>G XP_011523142.1:p.Tyr122Cys
XM_017024687.1:c.533A>G XP_016880176.1:p.Tyr178Cys
XM_024450771.1:c.1421A>G XP_024306539.1:p.Tyr474Cys
XM_024450772.1:c.365A>G XP_024306540.1:p.Tyr122Cys
NM_000263.4:c.1364A>G MANE Select NP_000254.2:p.Tyr455Cys
Search 100 bp 5'
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