Canonical Allele Identifier: CA399595967
Gene: NAGLU HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.40688577T>A (hg19) chr17:g.42536559T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42536559T>A , CM000679.2:g.42536559T>A GRCh38
NC_000017.10:g.40688577T>A , CM000679.1:g.40688577T>A GRCh37
NC_000017.9:g.37942103T>A NCBI36
NG_011552.1:g.5627T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000225927.7:c.287T>A MANE Select ENSP00000225927.1:p.Phe96Tyr
ENST00000225927.6:c.287T>A ENSP00000225927.1:p.Phe96Tyr
ENST00000586516.5:c.37T>A
ENST00000591587.1:c.30T>A ENSP00000467836.1:p.Leu10=
NM_000263.3:c.287T>A NP_000254.2:p.Phe96Tyr
XM_006721920.2:c.-456T>A XP_006721983.1:n.-456T>A
XM_011524840.1:c.-456T>A XP_011523142.1:n.-456T>A
XM_024450771.1:c.287T>A XP_024306539.1:p.Phe96Tyr
NM_000263.4:c.287T>A MANE Select NP_000254.2:p.Phe96Tyr
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