Canonical Allele Identifier: CA8576704
Gene: NAGLU HGNC NCBI

Linked Data

ClinVar Variation Id: 323294
ClinVar RCV Id: RCV000325498 RCV000915198
dbSNP Id: rs559674042
ExAC: 17:40688638 C / T
gnomAD v2: 17-40688638-C-T
gnomAD v3: 17-42536620-C-T
gnomAD v4: 17-42536620-C-T
MyVariant Identifiers: chr17:g.40688638C>T (hg19) chr17:g.42536620C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42536620C>T , CM000679.2:g.42536620C>T GRCh38
NC_000017.10:g.40688638C>T , CM000679.1:g.40688638C>T GRCh37
NC_000017.9:g.37942164C>T NCBI36
NG_011552.1:g.5688C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000225927.7:c.348C>T MANE Select ENSP00000225927.1:p.Ala116=
ENST00000225927.6:c.348C>T ENSP00000225927.1:p.Ala116=
ENST00000586516.5:c.98C>T
ENST00000591587.1:c.91C>T ENSP00000467836.1:p.Arg31Cys
NM_000263.3:c.348C>T NP_000254.2:p.Ala116=
XM_006721920.2:c.-395C>T XP_006721983.1:n.-395C>T
XM_011524840.1:c.-395C>T XP_011523142.1:n.-395C>T
XM_024450771.1:c.348C>T XP_024306539.1:p.Ala116=
NM_000263.4:c.348C>T MANE Select NP_000254.2:p.Ala116=
Search 100 bp 5'
Search 100 bp 3'