Canonical Allele Identifier: CA8576992

Gene: NAGLU

Linked Data

• ClinVar Variation Id: 2048154
• ClinVar RCV Id: RCV002918584
• dbSNP Id: rs759041924
• ExAC: 17:40695315 C / T
• gnomAD v2: 17-40695315-C-T
• gnomAD v3: 17-42543297-C-T
• gnomAD v4: 17-42543297-C-T
• MyVariant Identifiers: chr17:g.40695315C>T (hg19) ; chr17:g.42543297C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42543297C>T , CM000679.2:g.42543297C>T	GRCh38
NC_000017.10:g.40695315C>T , CM000679.1:g.40695315C>T	GRCh37
NC_000017.9:g.37948841C>T	NCBI36
NG_011552.1:g.12365C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.1291C>T MANE Select	ENSP00000225927.1:p.Arg431Cys
ENST00000225927.6:c.1291C>T	ENSP00000225927.1:p.Arg431Cys
ENST00000591587.1:c.629C>T	ENSP00000467836.1:n.629C>T
ENST00000592454.1:c.330C>T
NM_000263.3:c.1291C>T	NP_000254.2:p.Arg431Cys
XM_006721920.2:c.460C>T	XP_006721983.1:p.Arg154Cys
XM_011524840.1:c.292C>T	XP_011523142.1:p.Arg98Cys
XM_017024687.1:c.460C>T	XP_016880176.1:p.Arg154Cys
XM_024450771.1:c.1348C>T	XP_024306539.1:p.Arg450Cys
XM_024450772.1:c.292C>T	XP_024306540.1:p.Arg98Cys
NM_000263.4:c.1291C>T MANE Select	NP_000254.2:p.Arg431Cys