Canonical Allele Identifier: CA399595328
Gene: NAGLU HGNC NCBI

Linked Data

ClinVar Variation Id: 1428306
ClinVar RCV Id: RCV001936239
dbSNP Id: rs2092906065
gnomAD v2: 17-40688399-G-T
gnomAD v3: 17-42536381-G-T
gnomAD v4: 17-42536381-G-T
MyVariant Identifiers: chr17:g.40688399G>T (hg19) chr17:g.42536381G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42536381G>T , CM000679.2:g.42536381G>T GRCh38
NC_000017.10:g.40688399G>T , CM000679.1:g.40688399G>T GRCh37
NC_000017.9:g.37941925G>T NCBI36
NG_011552.1:g.5449G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000225927.7:c.109G>T MANE Select ENSP00000225927.1:p.Ala37Ser
ENST00000225927.6:c.109G>T ENSP00000225927.1:p.Ala37Ser
NM_000263.3:c.109G>T NP_000254.2:p.Ala37Ser
XM_024450771.1:c.109G>T XP_024306539.1:p.Ala37Ser
NM_000263.4:c.109G>T MANE Select NP_000254.2:p.Ala37Ser
Search 100 bp 5'
Search 100 bp 3'