Canonical Allele Identifier: CA399603952

Gene: NAGLU

Linked Data

• ClinVar Variation Id: 2138027
• ClinVar RCV Id: RCV003050473
• dbSNP Id: rs1165365401
• MyVariant Identifiers: chr17:g.40695506G>A (hg19) ; chr17:g.42543488G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42543488G>A , CM000679.2:g.42543488G>A	GRCh38
NC_000017.10:g.40695506G>A , CM000679.1:g.40695506G>A	GRCh37
NC_000017.9:g.37949032G>A	NCBI36
NG_011552.1:g.12556G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.1482G>A MANE Select	ENSP00000225927.1:p.Trp494Ter
ENST00000225927.6:c.1482G>A	ENSP00000225927.1:p.Trp494Ter
ENST00000591587.1:c.820G>A	ENSP00000467836.1:n.820G>A
ENST00000592454.1:c.521G>A
NM_000263.3:c.1482G>A	NP_000254.2:p.Trp494Ter
XM_006721920.2:c.651G>A	XP_006721983.1:p.Trp217Ter
XM_011524840.1:c.483G>A	XP_011523142.1:p.Trp161Ter
XM_017024687.1:c.651G>A	XP_016880176.1:p.Trp217Ter
XM_024450771.1:c.1539G>A	XP_024306539.1:p.Trp513Ter
XM_024450772.1:c.483G>A	XP_024306540.1:p.Trp161Ter
NM_000263.4:c.1482G>A MANE Select	NP_000254.2:p.Trp494Ter