Canonical Allele Identifier: CA399595774
Gene: NAGLU HGNC NCBI

Linked Data

ClinVar Variation Id: 1990513
ClinVar RCV Id: RCV002800927
dbSNP Id: rs2092906632
gnomAD v3: 17-42536514-C-T
gnomAD v4: 17-42536514-C-T
MyVariant Identifiers: chr17:g.40688532C>T (hg19) chr17:g.42536514C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42536514C>T , CM000679.2:g.42536514C>T GRCh38
NC_000017.10:g.40688532C>T , CM000679.1:g.40688532C>T GRCh37
NC_000017.9:g.37942058C>T NCBI36
NG_011552.1:g.5582C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000225927.7:c.242C>T MANE Select ENSP00000225927.1:p.Thr81Met
ENST00000225927.6:c.242C>T ENSP00000225927.1:p.Thr81Met
NM_000263.3:c.242C>T NP_000254.2:p.Thr81Met
XM_024450771.1:c.242C>T XP_024306539.1:p.Thr81Met
NM_000263.4:c.242C>T MANE Select NP_000254.2:p.Thr81Met
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