Canonical Allele Identifier: CA399595524
Gene: NAGLU HGNC NCBI

Linked Data

gnomAD v4: 17-42536447-A-G
MyVariant Identifiers: chr17:g.40688465A>G (hg19) chr17:g.42536447A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42536447A>G , CM000679.2:g.42536447A>G GRCh38
NC_000017.10:g.40688465A>G , CM000679.1:g.40688465A>G GRCh37
NC_000017.9:g.37941991A>G NCBI36
NG_011552.1:g.5515A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000225927.7:c.175A>G MANE Select ENSP00000225927.1:p.Lys59Glu
ENST00000225927.6:c.175A>G ENSP00000225927.1:p.Lys59Glu
NM_000263.3:c.175A>G NP_000254.2:p.Lys59Glu
XM_024450771.1:c.175A>G XP_024306539.1:p.Lys59Glu
NM_000263.4:c.175A>G MANE Select NP_000254.2:p.Lys59Glu
Search 100 bp 5'
Search 100 bp 3'