Canonical Allele Identifier: CA399596004
Gene: NAGLU HGNC NCBI

Linked Data

gnomAD v4: 17-42536569-C-G
MyVariant Identifiers: chr17:g.40688587C>G (hg19) chr17:g.42536569C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42536569C>G , CM000679.2:g.42536569C>G GRCh38
NC_000017.10:g.40688587C>G , CM000679.1:g.40688587C>G GRCh37
NC_000017.9:g.37942113C>G NCBI36
NG_011552.1:g.5637C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000225927.7:c.297C>G MANE Select ENSP00000225927.1:p.Cys99Trp
ENST00000225927.6:c.297C>G ENSP00000225927.1:p.Cys99Trp
ENST00000586516.5:c.47C>G
ENST00000591587.1:c.40C>G ENSP00000467836.1:p.Pro14Ala
NM_000263.3:c.297C>G NP_000254.2:p.Cys99Trp
XM_006721920.2:c.-446C>G XP_006721983.1:n.-446C>G
XM_011524840.1:c.-446C>G XP_011523142.1:n.-446C>G
XM_024450771.1:c.297C>G XP_024306539.1:p.Cys99Trp
NM_000263.4:c.297C>G MANE Select NP_000254.2:p.Cys99Trp
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