Canonical Allele Identifier: CA983827450
Gene: NAGLU HGNC NCBI

Linked Data

dbSNP Id: rs886052951
gnomAD v3: 17-42536195-C-T
gnomAD v4: 17-42536195-C-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42536195C>T , CM000679.2:g.42536195C>T GRCh38
NC_000017.10:g.40688213C>T , CM000679.1:g.40688213C>T GRCh37
NC_000017.9:g.37941739C>T NCBI36
NG_011552.1:g.5263C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000225927.6:c.-78C>T ENSP00000225927.1:n.-78C>T
NM_000263.3:c.-78C>T NP_000254.2:n.-78C>T
XM_024450771.1:c.-78C>T XP_024306539.1:n.-78C>T
Search 100 bp 5'
Search 100 bp 3'