Canonical Allele Identifier: CA399595535
Gene: NAGLU HGNC NCBI

Linked Data

gnomAD v4: 17-42536450-C-G
MyVariant Identifiers: chr17:g.40688468C>G (hg19) chr17:g.42536450C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42536450C>G , CM000679.2:g.42536450C>G GRCh38
NC_000017.10:g.40688468C>G , CM000679.1:g.40688468C>G GRCh37
NC_000017.9:g.37941994C>G NCBI36
NG_011552.1:g.5518C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000225927.7:c.178C>G MANE Select ENSP00000225927.1:p.Pro60Ala
ENST00000225927.6:c.178C>G ENSP00000225927.1:p.Pro60Ala
NM_000263.3:c.178C>G NP_000254.2:p.Pro60Ala
XM_024450771.1:c.178C>G XP_024306539.1:p.Pro60Ala
NM_000263.4:c.178C>G MANE Select NP_000254.2:p.Pro60Ala
Search 100 bp 5'
Search 100 bp 3'