Canonical Allele Identifier: CA290771569
Gene: NAGLU HGNC NCBI

Linked Data

dbSNP Id: rs764552070
gnomAD v4: 17-42536748-T-C
MyVariant Identifiers: chr17:g.40688766T>C (hg19) chr17:g.42536748T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42536748T>C , CM000679.2:g.42536748T>C GRCh38
NC_000017.10:g.40688766T>C , CM000679.1:g.40688766T>C GRCh37
NC_000017.9:g.37942292T>C NCBI36
NG_011552.1:g.5816T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000225927.7:c.383+93T>C MANE Select ENSP00000225927.1:n.383+93T>C
ENST00000225927.6:c.383+93T>C ENSP00000225927.1:n.383+93T>C
ENST00000586516.5:c.133+93T>C
ENST00000591587.1:c.126+93T>C ENSP00000467836.1:n.126+93T>C
NM_000263.3:c.383+93T>C NP_000254.2:n.383+93T>C
XM_006721920.2:c.-360+93T>C XP_006721983.1:n.-360+93T>C
XM_011524840.1:c.-360+93T>C XP_011523142.1:n.-360+93T>C
XM_024450771.1:c.384-69T>C XP_024306539.1:n.384-69T>C
NM_000263.4:c.383+93T>C MANE Select NP_000254.2:n.383+93T>C
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