Canonical Allele Identifier: CA290771244
Gene: NAGLU HGNC NCBI

Linked Data

ClinVar Variation Id: 1518017
ClinVar RCV Id: RCV002021444
dbSNP Id: rs988433554
gnomAD v4: 17-42536349-C-T
MyVariant Identifiers: chr17:g.40688367C>T (hg19) chr17:g.42536349C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42536349C>T , CM000679.2:g.42536349C>T GRCh38
NC_000017.10:g.40688367C>T , CM000679.1:g.40688367C>T GRCh37
NC_000017.9:g.37941893C>T NCBI36
NG_011552.1:g.5417C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000225927.7:c.77C>T MANE Select ENSP00000225927.1:p.Ala26Val
ENST00000225927.6:c.77C>T ENSP00000225927.1:p.Ala26Val
NM_000263.3:c.77C>T NP_000254.2:p.Ala26Val
XM_024450771.1:c.77C>T XP_024306539.1:p.Ala26Val
NM_000263.4:c.77C>T MANE Select NP_000254.2:p.Ala26Val
Search 100 bp 5'
Search 100 bp 3'