Canonical Allele Identifier: CA290771313
Gene: NAGLU HGNC NCBI

Linked Data

ClinVar Variation Id: 1980751
ClinVar RCV Id: RCV002761573
dbSNP Id: rs973885994
gnomAD v2: 17-40688462-G-A
gnomAD v3: 17-42536444-G-A
gnomAD v4: 17-42536444-G-A
MyVariant Identifiers: chr17:g.40688462G>A (hg19) chr17:g.42536444G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42536444G>A , CM000679.2:g.42536444G>A GRCh38
NC_000017.10:g.40688462G>A , CM000679.1:g.40688462G>A GRCh37
NC_000017.9:g.37941988G>A NCBI36
NG_011552.1:g.5512G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000225927.7:c.172G>A MANE Select ENSP00000225927.1:p.Ala58Thr
ENST00000225927.6:c.172G>A ENSP00000225927.1:p.Ala58Thr
NM_000263.3:c.172G>A NP_000254.2:p.Ala58Thr
XM_024450771.1:c.172G>A XP_024306539.1:p.Ala58Thr
NM_000263.4:c.172G>A MANE Select NP_000254.2:p.Ala58Thr
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