Canonical Allele Identifier: CA399595358
Gene: NAGLU HGNC NCBI

Linked Data

gnomAD v4: 17-42536397-C-A
MyVariant Identifiers: chr17:g.40688415C>A (hg19) chr17:g.42536397C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42536397C>A , CM000679.2:g.42536397C>A GRCh38
NC_000017.10:g.40688415C>A , CM000679.1:g.40688415C>A GRCh37
NC_000017.9:g.37941941C>A NCBI36
NG_011552.1:g.5465C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000225927.7:c.125C>A MANE Select ENSP00000225927.1:p.Pro42Gln
ENST00000225927.6:c.125C>A ENSP00000225927.1:p.Pro42Gln
NM_000263.3:c.125C>A NP_000254.2:p.Pro42Gln
XM_024450771.1:c.125C>A XP_024306539.1:p.Pro42Gln
NM_000263.4:c.125C>A MANE Select NP_000254.2:p.Pro42Gln
Search 100 bp 5'
Search 100 bp 3'