Canonical Allele Identifier: CA500215769
Gene: NAGLU HGNC NCBI

Linked Data

ClinVar Variation Id: 1638166
ClinVar RCV Id: RCV002133900
dbSNP Id: rs1318421483
gnomAD v2: 17-40688584-C-T
gnomAD v4: 17-42536566-C-T
MyVariant Identifiers: chr17:g.40688584C>T (hg19) chr17:g.42536566C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42536566C>T , CM000679.2:g.42536566C>T GRCh38
NC_000017.10:g.40688584C>T , CM000679.1:g.40688584C>T GRCh37
NC_000017.9:g.37942110C>T NCBI36
NG_011552.1:g.5634C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000225927.7:c.294C>T MANE Select ENSP00000225927.1:p.Gly98=
ENST00000225927.6:c.294C>T ENSP00000225927.1:p.Gly98=
ENST00000586516.5:c.44C>T
ENST00000591587.1:c.37C>T ENSP00000467836.1:p.Leu13=
NM_000263.3:c.294C>T NP_000254.2:p.Gly98=
XM_006721920.2:c.-449C>T XP_006721983.1:n.-449C>T
XM_011524840.1:c.-449C>T XP_011523142.1:n.-449C>T
XM_024450771.1:c.294C>T XP_024306539.1:p.Gly98=
NM_000263.4:c.294C>T MANE Select NP_000254.2:p.Gly98=
Search 100 bp 5'
Search 100 bp 3'