Canonical Allele Identifier: CA8576897
Gene: NAGLU HGNC NCBI

Linked Data

ClinVar Variation Id: 1153785
ClinVar RCV Id: RCV001495558
dbSNP Id: rs746626709
ExAC: 17:40693097 G / A
gnomAD v2: 17-40693097-G-A
gnomAD v3: 17-42541079-G-A
gnomAD v4: 17-42541079-G-A
MyVariant Identifiers: chr17:g.40693097G>A (hg19) chr17:g.42541079G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42541079G>A , CM000679.2:g.42541079G>A GRCh38
NC_000017.10:g.40693097G>A , CM000679.1:g.40693097G>A GRCh37
NC_000017.9:g.37946623G>A NCBI36
NG_011552.1:g.10147G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000225927.7:c.894G>A MANE Select ENSP00000225927.1:p.Glu298=
ENST00000225927.6:c.894G>A ENSP00000225927.1:p.Glu298=
ENST00000586516.5:c.496G>A
ENST00000591587.1:c.360-1949G>A ENSP00000467836.1:n.360-1949G>A
NM_000263.3:c.894G>A NP_000254.2:p.Glu298=
XM_006721920.2:c.63G>A XP_006721983.1:p.Glu21=
XM_011524840.1:c.23-1949G>A XP_011523142.1:n.23-1949G>A
XM_017024687.1:c.63G>A XP_016880176.1:p.Glu21=
XM_024450771.1:c.951G>A XP_024306539.1:p.Glu317=
XM_024450772.1:c.23-1949G>A XP_024306540.1:n.23-1949G>A
NM_000263.4:c.894G>A MANE Select NP_000254.2:p.Glu298=
Search 100 bp 5'
Search 100 bp 3'