Canonical Allele Identifier: CA2637976320
Gene: NAGLU HGNC NCBI

Linked Data

gnomAD v4: 17-42544283-A-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42544283A>C , CM000679.2:g.42544283A>C GRCh38
NC_000017.10:g.40696301A>C , CM000679.1:g.40696301A>C GRCh37
NC_000017.9:g.37949827A>C NCBI36
NG_011552.1:g.13351A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000225927.7:c.*45A>C MANE Select ENSP00000225927.1:n.*45A>C
ENST00000225927.6:c.*45A>C ENSP00000225927.1:n.*45A>C
NM_000263.3:c.*45A>C NP_000254.2:n.*45A>C
XM_006721920.2:c.*45A>C XP_006721983.1:n.*45A>C
XM_011524840.1:c.*45A>C XP_011523142.1:n.*45A>C
XM_017024687.1:c.*45A>C XP_016880176.1:n.*45A>C
XM_024450771.1:c.*45A>C XP_024306539.1:n.*45A>C
XM_024450772.1:c.*45A>C XP_024306540.1:n.*45A>C
NM_000263.4:c.*45A>C MANE Select NP_000254.2:n.*45A>C
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