Canonical Allele Identifier: CA500215878
Gene: NAGLU HGNC NCBI

Linked Data

dbSNP Id: rs1193731707
gnomAD v4: 17-42536389-G-A
MyVariant Identifiers: chr17:g.40688407G>A (hg19) chr17:g.42536389G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42536389G>A , CM000679.2:g.42536389G>A GRCh38
NC_000017.10:g.40688407G>A , CM000679.1:g.40688407G>A GRCh37
NC_000017.9:g.37941933G>A NCBI36
NG_011552.1:g.5457G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000225927.7:c.117G>A MANE Select ENSP00000225927.1:p.Leu39=
ENST00000225927.6:c.117G>A ENSP00000225927.1:p.Leu39=
NM_000263.3:c.117G>A NP_000254.2:p.Leu39=
XM_024450771.1:c.117G>A XP_024306539.1:p.Leu39=
NM_000263.4:c.117G>A MANE Select NP_000254.2:p.Leu39=
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