Canonical Allele Identifier: CA8576697
Gene: NAGLU HGNC NCBI

Linked Data

dbSNP Id: rs756249537
ExAC: 17:40688261 G / A
gnomAD v2: 17-40688261-G-A
gnomAD v3: 17-42536243-G-A
gnomAD v4: 17-42536243-G-A
MyVariant Identifiers: chr17:g.40688261G>A (hg19) chr17:g.42536243G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42536243G>A , CM000679.2:g.42536243G>A GRCh38
NC_000017.10:g.40688261G>A , CM000679.1:g.40688261G>A GRCh37
NC_000017.9:g.37941787G>A NCBI36
NG_011552.1:g.5311G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000225927.7:c.-30G>A MANE Select ENSP00000225927.1:n.-30G>A
ENST00000225927.6:c.-30G>A ENSP00000225927.1:n.-30G>A
NM_000263.3:c.-30G>A NP_000254.2:n.-30G>A
XM_024450771.1:c.-30G>A XP_024306539.1:n.-30G>A
NM_000263.4:c.-30G>A MANE Select NP_000254.2:n.-30G>A
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