Canonical Allele Identifier: CA399604541

Gene: NAGLU

Linked Data

• ClinVar Variation Id: 557506
• ClinVar RCV Id: RCV000673658 ; RCV001268871
• dbSNP Id: rs1555622441
• gnomAD v4: 17-42543711-C-T
• MyVariant Identifiers: chr17:g.40695729C>T (hg19) ; chr17:g.42543711C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42543711C>T , CM000679.2:g.42543711C>T	GRCh38
NC_000017.10:g.40695729C>T , CM000679.1:g.40695729C>T	GRCh37
NC_000017.9:g.37949255C>T	NCBI36
NG_011552.1:g.12779C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.1705C>T MANE Select	ENSP00000225927.1:p.Gln569Ter
ENST00000225927.6:c.1705C>T	ENSP00000225927.1:p.Gln569Ter
ENST00000591587.1:c.1043C>T	ENSP00000467836.1:n.1043C>T
NM_000263.3:c.1705C>T	NP_000254.2:p.Gln569Ter
XM_006721920.2:c.874C>T	XP_006721983.1:p.Gln292Ter
XM_011524840.1:c.706C>T	XP_011523142.1:p.Gln236Ter
XM_017024687.1:c.874C>T	XP_016880176.1:p.Gln292Ter
XM_024450771.1:c.1762C>T	XP_024306539.1:p.Gln588Ter
XM_024450772.1:c.706C>T	XP_024306540.1:p.Gln236Ter
NM_000263.4:c.1705C>T MANE Select	NP_000254.2:p.Gln569Ter