Canonical Allele Identifier: CA2637976313
Gene: NAGLU HGNC NCBI

Linked Data

gnomAD v4: 17-42544277-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42544277C>A , CM000679.2:g.42544277C>A GRCh38
NC_000017.10:g.40696295C>A , CM000679.1:g.40696295C>A GRCh37
NC_000017.9:g.37949821C>A NCBI36
NG_011552.1:g.13345C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000225927.7:c.*39C>A MANE Select ENSP00000225927.1:n.*39C>A
ENST00000225927.6:c.*39C>A ENSP00000225927.1:n.*39C>A
NM_000263.3:c.*39C>A NP_000254.2:n.*39C>A
XM_006721920.2:c.*39C>A XP_006721983.1:n.*39C>A
XM_011524840.1:c.*39C>A XP_011523142.1:n.*39C>A
XM_017024687.1:c.*39C>A XP_016880176.1:n.*39C>A
XM_024450771.1:c.*39C>A XP_024306539.1:n.*39C>A
XM_024450772.1:c.*39C>A XP_024306540.1:n.*39C>A
NM_000263.4:c.*39C>A MANE Select NP_000254.2:n.*39C>A
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