Canonical Allele Identifier: CA399605528

Gene: NAGLU

Linked Data

• ClinVar Variation Id: 557035
• ClinVar RCV Id: RCV000673123
• dbSNP Id: rs1555622533
• MyVariant Identifiers: chr17:g.40695956C>G (hg19) ; chr17:g.42543938C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42543938C>G , CM000679.2:g.42543938C>G	GRCh38
NC_000017.10:g.40695956C>G , CM000679.1:g.40695956C>G	GRCh37
NC_000017.9:g.37949482C>G	NCBI36
NG_011552.1:g.13006C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000225927.7:c.1932C>G MANE Select	ENSP00000225927.1:p.Tyr644Ter
ENST00000225927.6:c.1932C>G	ENSP00000225927.1:p.Tyr644Ter
ENST00000591587.1:c.1270C>G	ENSP00000467836.1:n.1270C>G
NM_000263.3:c.1932C>G	NP_000254.2:p.Tyr644Ter
XM_006721920.2:c.1101C>G	XP_006721983.1:p.Tyr367Ter
XM_011524840.1:c.933C>G	XP_011523142.1:p.Tyr311Ter
XM_017024687.1:c.1101C>G	XP_016880176.1:p.Tyr367Ter
XM_024450771.1:c.1989C>G	XP_024306539.1:p.Tyr663Ter
XM_024450772.1:c.933C>G	XP_024306540.1:p.Tyr311Ter
NM_000263.4:c.1932C>G MANE Select	NP_000254.2:p.Tyr644Ter