Canonical Allele Identifier: CA500215981
Gene: NAGLU HGNC NCBI

Linked Data

ClinVar Variation Id: 1143105
ClinVar RCV Id: RCV001481140
dbSNP Id: rs2143076082
gnomAD v4: 17-42536425-G-T
MyVariant Identifiers: chr17:g.40688443G>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42536425G>T , CM000679.2:g.42536425G>T GRCh38
NC_000017.10:g.40688443G>T , CM000679.1:g.40688443G>T GRCh37
NC_000017.9:g.37941969G>T NCBI36
NG_011552.1:g.5493G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000225927.7:c.153G>T MANE Select ENSP00000225927.1:p.Ser51=
ENST00000225927.6:c.153G>T ENSP00000225927.1:p.Ser51=
NM_000263.3:c.153G>T NP_000254.2:p.Ser51=
XM_024450771.1:c.153G>T XP_024306539.1:p.Ser51=
NM_000263.4:c.153G>T MANE Select NP_000254.2:p.Ser51=
Search 100 bp 5'
Search 100 bp 3'