Canonical Allele Identifier: CA10645689

Gene: NAGLU

Linked Data

• ClinVar Variation Id: 323287
• ClinVar RCV Id: RCV000259543 ; RCV003422285
• dbSNP Id: rs145830042
• gnomAD v2: 17-40688124-G-T
• gnomAD v3: 17-42536106-G-T
• gnomAD v4: 17-42536106-G-T
• MyVariant Identifiers: chr17:g.40688124G>T (hg19) ; chr17:g.42536106G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42536106G>T , CM000679.2:g.42536106G>T	GRCh38
NC_000017.10:g.40688124G>T , CM000679.1:g.40688124G>T	GRCh37
NC_000017.9:g.37941650G>T	NCBI36
NG_011552.1:g.5174G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000263.3:c.-167G>T	NP_000254.2:n.-167G>T
XM_024450771.1:c.-167G>T	XP_024306539.1:n.-167G>T