Canonical Allele Identifier: CA399596147
Gene: NAGLU HGNC NCBI

Linked Data

ClinVar Variation Id: 1501187
ClinVar RCV Id: RCV002017278
dbSNP Id: rs1567890347
gnomAD v4: 17-42536604-C-T
MyVariant Identifiers: chr17:g.40688622C>T (hg19) chr17:g.42536604C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42536604C>T , CM000679.2:g.42536604C>T GRCh38
NC_000017.10:g.40688622C>T , CM000679.1:g.40688622C>T GRCh37
NC_000017.9:g.37942148C>T NCBI36
NG_011552.1:g.5672C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000225927.7:c.332C>T MANE Select ENSP00000225927.1:p.Pro111Leu
ENST00000225927.6:c.332C>T ENSP00000225927.1:p.Pro111Leu
ENST00000586516.5:c.82C>T
ENST00000591587.1:c.75C>T ENSP00000467836.1:p.Ala25=
NM_000263.3:c.332C>T NP_000254.2:p.Pro111Leu
XM_006721920.2:c.-411C>T XP_006721983.1:n.-411C>T
XM_011524840.1:c.-411C>T XP_011523142.1:n.-411C>T
XM_024450771.1:c.332C>T XP_024306539.1:p.Pro111Leu
NM_000263.4:c.332C>T MANE Select NP_000254.2:p.Pro111Leu
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