Canonical Allele Identifier: CA290778699
Gene: NAGLU HGNC NCBI
MyVariant.info:
GRCh38 chr17:g.42541119G>A
GRCh37 chr17:g.40693137G>A
Revel Score:
ENST00000225927 (MANE Select) 0.919
gnomAD v2:
17:40693137 G / A
gnomAD v3:
17:42541119 G / A
gnomAD v4:
chr17-42541119-G-A
Joint Max Group AF 0.00003856 (NFE)
Exomes Max Group AF 0.00004005 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42541119G>A , CM000679.2:g.42541119G>A GRCh38
NC_000017.10:g.40693137G>A , CM000679.1:g.40693137G>A GRCh37
NC_000017.9:g.37946663G>A NCBI36
NG_011552.1:g.10187G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000225927.7:c.934G>A MANE Select ENSP00000225927.1:p.Asp312Asn
ENST00000225927.6:c.934G>A ENSP00000225927.1:p.Asp312Asn
ENST00000591587.1:c.360-1909G>A ENSP00000467836.1:n.360-1909G>A
ENST00000592454.1:c.29G>A
NM_000263.3:c.934G>A NP_000254.2:p.Asp312Asn
XM_006721920.2:c.103G>A XP_006721983.1:p.Asp35Asn
XM_011524840.1:c.23-1909G>A XP_011523142.1:n.23-1909G>A
XM_017024687.1:c.103G>A XP_016880176.1:p.Asp35Asn
XM_024450771.1:c.991G>A XP_024306539.1:p.Asp331Asn
XM_024450772.1:c.23-1909G>A XP_024306540.1:n.23-1909G>A
NM_000263.4:c.934G>A MANE Select NP_000254.2:p.Asp312Asn
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