Canonical Allele Identifier: CA399605569
Gene: NAGLU HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.40695967T>A (hg19) chr17:g.42543949T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42543949T>A , CM000679.2:g.42543949T>A GRCh38
NC_000017.10:g.40695967T>A , CM000679.1:g.40695967T>A GRCh37
NC_000017.9:g.37949493T>A NCBI36
NG_011552.1:g.13017T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000225927.7:c.1943T>A MANE Select ENSP00000225927.1:p.Leu648Ter
ENST00000225927.6:c.1943T>A ENSP00000225927.1:p.Leu648Ter
ENST00000591587.1:c.1281T>A ENSP00000467836.1:n.1281T>A
NM_000263.3:c.1943T>A NP_000254.2:p.Leu648Ter
XM_006721920.2:c.1112T>A XP_006721983.1:p.Leu371Ter
XM_011524840.1:c.944T>A XP_011523142.1:p.Leu315Ter
XM_017024687.1:c.1112T>A XP_016880176.1:p.Leu371Ter
XM_024450771.1:c.2000T>A XP_024306539.1:p.Leu667Ter
XM_024450772.1:c.944T>A XP_024306540.1:p.Leu315Ter
NM_000263.4:c.1943T>A MANE Select NP_000254.2:p.Leu648Ter
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