Canonical Allele Identifier: CA8576915
Gene: NAGLU HGNC NCBI

Linked Data

ClinVar Variation Id: 370575
ClinVar RCV Id: RCV000411961 RCV003766125
dbSNP Id: rs376090795
ExAC: 17:40693209 G / T
gnomAD v2: 17-40693209-G-T
gnomAD v3: 17-42541191-G-T
gnomAD v4: 17-42541191-G-T
MyVariant Identifiers: chr17:g.40693209G>T (hg19) chr17:g.42541191G>T (hg38)
PubMed: PMID:11153910 PMID:25525159
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42541191G>T , CM000679.2:g.42541191G>T GRCh38
NC_000017.10:g.40693209G>T , CM000679.1:g.40693209G>T GRCh37
NC_000017.9:g.37946735G>T NCBI36
NG_011552.1:g.10259G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000225927.7:c.1006G>T MANE Select ENSP00000225927.1:p.Glu336Ter
ENST00000225927.6:c.1006G>T ENSP00000225927.1:p.Glu336Ter
ENST00000591587.1:c.360-1837G>T ENSP00000467836.1:n.360-1837G>T
ENST00000592454.1:c.101G>T
NM_000263.3:c.1006G>T NP_000254.2:p.Glu336Ter
XM_006721920.2:c.175G>T XP_006721983.1:p.Glu59Ter
XM_011524840.1:c.23-1837G>T XP_011523142.1:n.23-1837G>T
XM_017024687.1:c.175G>T XP_016880176.1:p.Glu59Ter
XM_024450771.1:c.1063G>T XP_024306539.1:p.Glu355Ter
XM_024450772.1:c.23-1837G>T XP_024306540.1:n.23-1837G>T
NM_000263.4:c.1006G>T MANE Select NP_000254.2:p.Glu336Ter
Search 100 bp 5'
Search 100 bp 3'