Canonical Allele Identifier: CA399605519

Gene: NAGLU

Linked Data

• ClinVar Variation Id: 1508553
• ClinVar RCV Id: RCV002016191
• dbSNP Id: rs2143114887
• MyVariant Identifiers: chr17:g.40695954T>G (hg19) ; chr17:g.42543936T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42543936T>G , CM000679.2:g.42543936T>G	GRCh38
NC_000017.10:g.40695954T>G , CM000679.1:g.40695954T>G	GRCh37
NC_000017.9:g.37949480T>G	NCBI36
NG_011552.1:g.13004T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000225927.7:c.1930T>G MANE Select	ENSP00000225927.1:p.Tyr644Asp
ENST00000225927.6:c.1930T>G	ENSP00000225927.1:p.Tyr644Asp
ENST00000591587.1:c.1268T>G	ENSP00000467836.1:n.1268T>G
NM_000263.3:c.1930T>G	NP_000254.2:p.Tyr644Asp
XM_006721920.2:c.1099T>G	XP_006721983.1:p.Tyr367Asp
XM_011524840.1:c.931T>G	XP_011523142.1:p.Tyr311Asp
XM_017024687.1:c.1099T>G	XP_016880176.1:p.Tyr367Asp
XM_024450771.1:c.1987T>G	XP_024306539.1:p.Tyr663Asp
XM_024450772.1:c.931T>G	XP_024306540.1:p.Tyr311Asp
NM_000263.4:c.1930T>G MANE Select	NP_000254.2:p.Tyr644Asp