Canonical Allele Identifier: CA772108935
Gene: NAGLU HGNC NCBI

Linked Data

dbSNP Id: rs1452677530
gnomAD v3: 17-42536252-G-C
gnomAD v4: 17-42536252-G-C
MyVariant Identifiers: chr17:g.40688270G>C (hg19) chr17:g.42536252G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42536252G>C , CM000679.2:g.42536252G>C GRCh38
NC_000017.10:g.40688270G>C , CM000679.1:g.40688270G>C GRCh37
NC_000017.9:g.37941796G>C NCBI36
NG_011552.1:g.5320G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000225927.7:c.-21G>C MANE Select ENSP00000225927.1:n.-21G>C
ENST00000225927.6:c.-21G>C ENSP00000225927.1:n.-21G>C
NM_000263.3:c.-21G>C NP_000254.2:n.-21G>C
XM_024450771.1:c.-21G>C XP_024306539.1:n.-21G>C
NM_000263.4:c.-21G>C MANE Select NP_000254.2:n.-21G>C
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