Canonical Allele Identifier: CA290781439

Gene: NAGLU

Linked Data

• dbSNP Id: rs367559727
• gnomAD v2: 17-40696300-C-T
• gnomAD v4: 17-42544282-C-T
• MyVariant Identifiers: chr17:g.40696300C>T (hg19) ; chr17:g.42544282C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42544282C>T , CM000679.2:g.42544282C>T	GRCh38
NC_000017.10:g.40696300C>T , CM000679.1:g.40696300C>T	GRCh37
NC_000017.9:g.37949826C>T	NCBI36
NG_011552.1:g.13350C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.*44C>T MANE Select	ENSP00000225927.1:n.*44C>T
ENST00000225927.6:c.*44C>T	ENSP00000225927.1:n.*44C>T
NM_000263.3:c.*44C>T	NP_000254.2:n.*44C>T
XM_006721920.2:c.*44C>T	XP_006721983.1:n.*44C>T
XM_011524840.1:c.*44C>T	XP_011523142.1:n.*44C>T
XM_017024687.1:c.*44C>T	XP_016880176.1:n.*44C>T
XM_024450771.1:c.*44C>T	XP_024306539.1:n.*44C>T
XM_024450772.1:c.*44C>T	XP_024306540.1:n.*44C>T
NM_000263.4:c.*44C>T MANE Select	NP_000254.2:n.*44C>T