Canonical Allele Identifier: CA399595401
Gene: NAGLU HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.40688432T>A (hg19) chr17:g.42536414T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42536414T>A , CM000679.2:g.42536414T>A GRCh38
NC_000017.10:g.40688432T>A , CM000679.1:g.40688432T>A GRCh37
NC_000017.9:g.37941958T>A NCBI36
NG_011552.1:g.5482T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000225927.7:c.142T>A MANE Select ENSP00000225927.1:p.Phe48Ile
ENST00000225927.6:c.142T>A ENSP00000225927.1:p.Phe48Ile
NM_000263.3:c.142T>A NP_000254.2:p.Phe48Ile
XM_024450771.1:c.142T>A XP_024306539.1:p.Phe48Ile
NM_000263.4:c.142T>A MANE Select NP_000254.2:p.Phe48Ile
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