Canonical Allele Identifier: CA399604916

Gene: NAGLU

Linked Data

• dbSNP Id: rs2092929171
• gnomAD v4: 17-42543805-A-G
• MyVariant Identifiers: chr17:g.40695823A>G (hg19) ; chr17:g.42543805A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42543805A>G , CM000679.2:g.42543805A>G	GRCh38
NC_000017.10:g.40695823A>G , CM000679.1:g.40695823A>G	GRCh37
NC_000017.9:g.37949349A>G	NCBI36
NG_011552.1:g.12873A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.1799A>G MANE Select	ENSP00000225927.1:p.Tyr600Cys
ENST00000225927.6:c.1799A>G	ENSP00000225927.1:p.Tyr600Cys
ENST00000591587.1:c.1137A>G	ENSP00000467836.1:n.1137A>G
NM_000263.3:c.1799A>G	NP_000254.2:p.Tyr600Cys
XM_006721920.2:c.968A>G	XP_006721983.1:p.Tyr323Cys
XM_011524840.1:c.800A>G	XP_011523142.1:p.Tyr267Cys
XM_017024687.1:c.968A>G	XP_016880176.1:p.Tyr323Cys
XM_024450771.1:c.1856A>G	XP_024306539.1:p.Tyr619Cys
XM_024450772.1:c.800A>G	XP_024306540.1:p.Tyr267Cys
NM_000263.4:c.1799A>G MANE Select	NP_000254.2:p.Tyr600Cys