Canonical Allele Identifier: CA115042
Gene: NAGLU HGNC NCBI
MyVariant.info:
GRCh38 chr17:g.42544027G>A
GRCh37 chr17:g.40696045G>A
Revel Score:
ENST00000225927 (MANE Select) 0.961
ENST00000377405 0.961
gnomAD v2:
17:40696045 G / A
gnomAD v3:
17:42544027 G / A
gnomAD v4:
chr17-42544027-G-A
Joint Max Group AF 0.00001964 (NFE)
Genomes Max Group AF 0.00001171 (NFE)
Exomes Max Group AF 0.00001831 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42544027G>A , CM000679.2:g.42544027G>A GRCh38
NC_000017.10:g.40696045G>A , CM000679.1:g.40696045G>A GRCh37
NC_000017.9:g.37949571G>A NCBI36
NG_011552.1:g.13095G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000225927.7:c.2021G>A MANE Select ENSP00000225927.1:p.Arg674His
ENST00000225927.6:c.2021G>A ENSP00000225927.1:p.Arg674His
ENST00000591587.1:c.1359G>A ENSP00000467836.1:n.1359G>A
NM_000263.3:c.2021G>A NP_000254.2:p.Arg674His
XM_006721920.2:c.1190G>A XP_006721983.1:p.Arg397His
XM_011524840.1:c.1022G>A XP_011523142.1:p.Arg341His
XM_017024687.1:c.1190G>A XP_016880176.1:p.Arg397His
XM_024450771.1:c.2078G>A XP_024306539.1:p.Arg693His
XM_024450772.1:c.1022G>A XP_024306540.1:p.Arg341His
NM_000263.4:c.2021G>A MANE Select NP_000254.2:p.Arg674His
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