Canonical Allele Identifier: CA8576993
Gene: NAGLU HGNC NCBI
MyVariant.info:
GRCh38 chr17:g.42543310A>C
GRCh37 chr17:g.40695328A>C
Revel Score:
ENST00000225927 (MANE Select) 0.865
ENST00000377405 0.865
gnomAD v2:
17:40695328 A / C
gnomAD v3:
17:42543310 A / C
gnomAD v4:
chr17-42543310-A-C
Joint Max Group AF 0.00004284 (AMR)
Exomes Max Group AF 0.00004358 (AMR)
ClinVar Allele:
1490378
ClinVar RCV:
RCV001985079
RCV003319997
ClinVar Variation:
1445507
dbSNP:
764815033
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42543310A>C , CM000679.2:g.42543310A>C GRCh38
NC_000017.10:g.40695328A>C , CM000679.1:g.40695328A>C GRCh37
NC_000017.9:g.37948854A>C NCBI36
NG_011552.1:g.12378A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000225927.7:c.1304A>C MANE Select ENSP00000225927.1:p.Asn435Thr
ENST00000225927.6:c.1304A>C ENSP00000225927.1:p.Asn435Thr
ENST00000591587.1:c.642A>C ENSP00000467836.1:n.642A>C
ENST00000592454.1:c.343A>C
NM_000263.3:c.1304A>C NP_000254.2:p.Asn435Thr
XM_006721920.2:c.473A>C XP_006721983.1:p.Asn158Thr
XM_011524840.1:c.305A>C XP_011523142.1:p.Asn102Thr
XM_017024687.1:c.473A>C XP_016880176.1:p.Asn158Thr
XM_024450771.1:c.1361A>C XP_024306539.1:p.Asn454Thr
XM_024450772.1:c.305A>C XP_024306540.1:p.Asn102Thr
NM_000263.4:c.1304A>C MANE Select NP_000254.2:p.Asn435Thr
Search 100 bp 5'
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