Canonical Allele Identifier: CA290781412
Gene: NAGLU HGNC NCBI

Linked Data

dbSNP Id: rs1038595199
gnomAD v2: 17-40696293-T-A
gnomAD v3: 17-42544275-T-A
gnomAD v4: 17-42544275-T-A
MyVariant Identifiers: chr17:g.40696293T>A (hg19) chr17:g.42544275T>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42544275T>A , CM000679.2:g.42544275T>A GRCh38
NC_000017.10:g.40696293T>A , CM000679.1:g.40696293T>A GRCh37
NC_000017.9:g.37949819T>A NCBI36
NG_011552.1:g.13343T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000225927.7:c.*37T>A MANE Select ENSP00000225927.1:n.*37T>A
ENST00000225927.6:c.*37T>A ENSP00000225927.1:n.*37T>A
NM_000263.3:c.*37T>A NP_000254.2:n.*37T>A
XM_006721920.2:c.*37T>A XP_006721983.1:n.*37T>A
XM_011524840.1:c.*37T>A XP_011523142.1:n.*37T>A
XM_017024687.1:c.*37T>A XP_016880176.1:n.*37T>A
XM_024450771.1:c.*37T>A XP_024306539.1:n.*37T>A
XM_024450772.1:c.*37T>A XP_024306540.1:n.*37T>A
NM_000263.4:c.*37T>A MANE Select NP_000254.2:n.*37T>A
Search 100 bp 5'
Search 100 bp 3'