Canonical Allele Identifier: CA399596044
Gene: NAGLU HGNC NCBI

Linked Data

ClinVar Variation Id: 1493202
ClinVar RCV Id: RCV001984195
dbSNP Id: rs2143077245
gnomAD v4: 17-42536583-C-A
MyVariant Identifiers: chr17:g.40688601C>A (hg19) chr17:g.42536583C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42536583C>A , CM000679.2:g.42536583C>A GRCh38
NC_000017.10:g.40688601C>A , CM000679.1:g.40688601C>A GRCh37
NC_000017.9:g.37942127C>A NCBI36
NG_011552.1:g.5651C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000225927.7:c.311C>A MANE Select ENSP00000225927.1:p.Ser104Tyr
ENST00000225927.6:c.311C>A ENSP00000225927.1:p.Ser104Tyr
ENST00000586516.5:c.61C>A
ENST00000591587.1:c.54C>A ENSP00000467836.1:p.Val18=
NM_000263.3:c.311C>A NP_000254.2:p.Ser104Tyr
XM_006721920.2:c.-432C>A XP_006721983.1:n.-432C>A
XM_011524840.1:c.-432C>A XP_011523142.1:n.-432C>A
XM_024450771.1:c.311C>A XP_024306539.1:p.Ser104Tyr
NM_000263.4:c.311C>A MANE Select NP_000254.2:p.Ser104Tyr
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Search 100 bp 3'