Canonical Allele Identifier: CA8576764
Gene: NAGLU HGNC NCBI
MyVariant.info:
GRCh38 chr17:g.42537433A>G
GRCh37 chr17:g.40689451A>G
Revel Score:
ENST00000225927 (MANE Select) 0.995
gnomAD v2:
17:40689451 A / G
gnomAD v3:
17:42537433 A / G
gnomAD v4:
chr17-42537433-A-G
Joint Max Group AF 0.00001567 (NFE)
Genomes Max Group AF 0.00001172 (NFE)
Exomes Max Group AF 0.0000146 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42537433A>G , CM000679.2:g.42537433A>G GRCh38
NC_000017.10:g.40689451A>G , CM000679.1:g.40689451A>G GRCh37
NC_000017.9:g.37942977A>G NCBI36
NG_011552.1:g.6501A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000225927.7:c.419A>G MANE Select ENSP00000225927.1:p.Tyr140Cys
ENST00000225927.6:c.419A>G ENSP00000225927.1:p.Tyr140Cys
ENST00000586516.5:c.133+778A>G
ENST00000590358.1:c.107A>G ENSP00000466892.1:p.Tyr36Cys
ENST00000591587.1:c.126+778A>G ENSP00000467836.1:n.126+778A>G
NM_000263.3:c.419A>G NP_000254.2:p.Tyr140Cys
XM_006721920.2:c.-324A>G XP_006721983.1:n.-324A>G
XM_011524840.1:c.-324A>G XP_011523142.1:n.-324A>G
XM_017024687.1:c.-324A>G XP_016880176.1:n.-324A>G
XM_024450771.1:c.476A>G XP_024306539.1:p.Tyr159Cys
XM_024450772.1:c.-324A>G XP_024306540.1:n.-324A>G
NM_000263.4:c.419A>G MANE Select NP_000254.2:p.Tyr140Cys
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