Canonical Allele Identifier: CA399595347
Gene: NAGLU HGNC NCBI

Linked Data

ClinVar Variation Id: 2040904
ClinVar RCV Id: RCV002890843
MyVariant Identifiers: chr17:g.40688409T>G (hg19) chr17:g.42536391T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42536391T>G , CM000679.2:g.42536391T>G GRCh38
NC_000017.10:g.40688409T>G , CM000679.1:g.40688409T>G GRCh37
NC_000017.9:g.37941935T>G NCBI36
NG_011552.1:g.5459T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000225927.7:c.119T>G MANE Select ENSP00000225927.1:p.Leu40Arg
ENST00000225927.6:c.119T>G ENSP00000225927.1:p.Leu40Arg
NM_000263.3:c.119T>G NP_000254.2:p.Leu40Arg
XM_024450771.1:c.119T>G XP_024306539.1:p.Leu40Arg
NM_000263.4:c.119T>G MANE Select NP_000254.2:p.Leu40Arg
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