Canonical Allele Identifier: CA8577079
Gene: NAGLU HGNC NCBI
MyVariant.info:
GRCh38 chr17:g.42543700G>T
GRCh37 chr17:g.40695718G>T
Revel Score:
ENST00000225927 (MANE Select) 0.977
ENST00000377405 0.977
gnomAD v2:
17:40695718 G / T
gnomAD v4:
chr17-42543700-G-T
Joint Max Group AF 0.00000875 (SAS)
Exomes Max Group AF 0.00000924 (SAS)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42543700G>T , CM000679.2:g.42543700G>T GRCh38
NC_000017.10:g.40695718G>T , CM000679.1:g.40695718G>T GRCh37
NC_000017.9:g.37949244G>T NCBI36
NG_011552.1:g.12768G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000225927.7:c.1694G>T MANE Select ENSP00000225927.1:p.Arg565Leu
ENST00000225927.6:c.1694G>T ENSP00000225927.1:p.Arg565Leu
ENST00000591587.1:c.1032G>T ENSP00000467836.1:n.1032G>T
NM_000263.3:c.1694G>T NP_000254.2:p.Arg565Leu
XM_006721920.2:c.863G>T XP_006721983.1:p.Arg288Leu
XM_011524840.1:c.695G>T XP_011523142.1:p.Arg232Leu
XM_017024687.1:c.863G>T XP_016880176.1:p.Arg288Leu
XM_024450771.1:c.1751G>T XP_024306539.1:p.Arg584Leu
XM_024450772.1:c.695G>T XP_024306540.1:p.Arg232Leu
NM_000263.4:c.1694G>T MANE Select NP_000254.2:p.Arg565Leu
Search 100 bp 5'
Search 100 bp 3'