Canonical Allele Identifier: CA290781171

Gene: NAGLU

Linked Data

• ClinVar Variation Id: 1590220
• ClinVar RCV Id: RCV002107365
• dbSNP Id: rs934112717
• gnomAD v2: 17-40696037-C-T
• gnomAD v4: 17-42544019-C-T
• MyVariant Identifiers: chr17:g.40696037C>T (hg19) ; chr17:g.42544019C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42544019C>T , CM000679.2:g.42544019C>T	GRCh38
NC_000017.10:g.40696037C>T , CM000679.1:g.40696037C>T	GRCh37
NC_000017.9:g.37949563C>T	NCBI36
NG_011552.1:g.13087C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.2013C>T MANE Select	ENSP00000225927.1:p.Tyr671=
ENST00000225927.6:c.2013C>T	ENSP00000225927.1:p.Tyr671=
ENST00000591587.1:c.1351C>T	ENSP00000467836.1:n.1351C>T
NM_000263.3:c.2013C>T	NP_000254.2:p.Tyr671=
XM_006721920.2:c.1182C>T	XP_006721983.1:p.Tyr394=
XM_011524840.1:c.1014C>T	XP_011523142.1:p.Tyr338=
XM_017024687.1:c.1182C>T	XP_016880176.1:p.Tyr394=
XM_024450771.1:c.2070C>T	XP_024306539.1:p.Tyr690=
XM_024450772.1:c.1014C>T	XP_024306540.1:p.Tyr338=
NM_000263.4:c.2013C>T MANE Select	NP_000254.2:p.Tyr671=