Canonical Allele Identifier: CA8577091

Gene: NAGLU

Linked Data

• ClinVar Variation Id: 1413510
• ClinVar RCV Id: RCV001925992
• dbSNP Id: rs772901588
• ExAC: 17:40695810 G / T
• gnomAD v2: 17-40695810-G-T
• gnomAD v3: 17-42543792-G-T
• gnomAD v4: 17-42543792-G-T
• MyVariant Identifiers: chr17:g.40695810G>T (hg19) ; chr17:g.42543792G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42543792G>T , CM000679.2:g.42543792G>T	GRCh38
NC_000017.10:g.40695810G>T , CM000679.1:g.40695810G>T	GRCh37
NC_000017.9:g.37949336G>T	NCBI36
NG_011552.1:g.12860G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.1786G>T MANE Select	ENSP00000225927.1:p.Gly596Cys
ENST00000225927.6:c.1786G>T	ENSP00000225927.1:p.Gly596Cys
ENST00000591587.1:c.1124G>T	ENSP00000467836.1:n.1124G>T
NM_000263.3:c.1786G>T	NP_000254.2:p.Gly596Cys
XM_006721920.2:c.955G>T	XP_006721983.1:p.Gly319Cys
XM_011524840.1:c.787G>T	XP_011523142.1:p.Gly263Cys
XM_017024687.1:c.955G>T	XP_016880176.1:p.Gly319Cys
XM_024450771.1:c.1843G>T	XP_024306539.1:p.Gly615Cys
XM_024450772.1:c.787G>T	XP_024306540.1:p.Gly263Cys
NM_000263.4:c.1786G>T MANE Select	NP_000254.2:p.Gly596Cys