Canonical Allele Identifier: CA399601812
Gene: NAGLU HGNC NCBI

Linked Data

ClinVar Variation Id: 1184307
ClinVar RCV Id: RCV001542299
dbSNP Id: rs1432587285
gnomAD v2: 17-40695330-T-C
gnomAD v3: 17-42543312-T-C
gnomAD v4: 17-42543312-T-C
MyVariant Identifiers: chr17:g.40695330T>C (hg19) chr17:g.42543312T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42543312T>C , CM000679.2:g.42543312T>C GRCh38
NC_000017.10:g.40695330T>C , CM000679.1:g.40695330T>C GRCh37
NC_000017.9:g.37948856T>C NCBI36
NG_011552.1:g.12380T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000225927.7:c.1306T>C MANE Select ENSP00000225927.1:p.Ser436Pro
ENST00000225927.6:c.1306T>C ENSP00000225927.1:p.Ser436Pro
ENST00000591587.1:c.644T>C ENSP00000467836.1:n.644T>C
ENST00000592454.1:c.345T>C
NM_000263.3:c.1306T>C NP_000254.2:p.Ser436Pro
XM_006721920.2:c.475T>C XP_006721983.1:p.Ser159Pro
XM_011524840.1:c.307T>C XP_011523142.1:p.Ser103Pro
XM_017024687.1:c.475T>C XP_016880176.1:p.Ser159Pro
XM_024450771.1:c.1363T>C XP_024306539.1:p.Ser455Pro
XM_024450772.1:c.307T>C XP_024306540.1:p.Ser103Pro
NM_000263.4:c.1306T>C MANE Select NP_000254.2:p.Ser436Pro
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