Canonical Allele Identifier: CA399595302
Gene: NAGLU HGNC NCBI

Linked Data

ClinVar Variation Id: 2627733
ClinVar RCV Id: RCV003389026
gnomAD v4: 17-42536367-T-C
MyVariant Identifiers: chr17:g.40688385T>C (hg19) chr17:g.42536367T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42536367T>C , CM000679.2:g.42536367T>C GRCh38
NC_000017.10:g.40688385T>C , CM000679.1:g.40688385T>C GRCh37
NC_000017.9:g.37941911T>C NCBI36
NG_011552.1:g.5435T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000225927.7:c.95T>C MANE Select ENSP00000225927.1:p.Val32Ala
ENST00000225927.6:c.95T>C ENSP00000225927.1:p.Val32Ala
NM_000263.3:c.95T>C NP_000254.2:p.Val32Ala
XM_024450771.1:c.95T>C XP_024306539.1:p.Val32Ala
NM_000263.4:c.95T>C MANE Select NP_000254.2:p.Val32Ala
Search 100 bp 5'
Search 100 bp 3'