Canonical Allele Identifier: CA8577085
Gene: NAGLU HGNC NCBI
MyVariant.info:
GRCh38 chr17:g.42543750G>C
GRCh37 chr17:g.40695768G>C
Revel Score:
ENST00000225927 (MANE Select) 0.886
ENST00000377405 0.886
gnomAD v2:
17:40695768 G / C
gnomAD v4:
chr17-42543750-G-C
Joint Max Group AF 0.00001107 (NFE)
Exomes Max Group AF 0.00001175 (NFE)
ClinVar RCV:
RCV000314943
RCV002518010
ClinVar Variation:
288019
dbSNP:
144238669
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42543750G>C , CM000679.2:g.42543750G>C GRCh38
NC_000017.10:g.40695768G>C , CM000679.1:g.40695768G>C GRCh37
NC_000017.9:g.37949294G>C NCBI36
NG_011552.1:g.12818G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000225927.7:c.1744G>C MANE Select ENSP00000225927.1:p.Ala582Pro
ENST00000225927.6:c.1744G>C ENSP00000225927.1:p.Ala582Pro
ENST00000591587.1:c.1082G>C ENSP00000467836.1:n.1082G>C
NM_000263.3:c.1744G>C NP_000254.2:p.Ala582Pro
XM_006721920.2:c.913G>C XP_006721983.1:p.Ala305Pro
XM_011524840.1:c.745G>C XP_011523142.1:p.Ala249Pro
XM_017024687.1:c.913G>C XP_016880176.1:p.Ala305Pro
XM_024450771.1:c.1801G>C XP_024306539.1:p.Ala601Pro
XM_024450772.1:c.745G>C XP_024306540.1:p.Ala249Pro
NM_000263.4:c.1744G>C MANE Select NP_000254.2:p.Ala582Pro
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