Canonical Allele Identifier: CA500216601

Gene: NAGLU

Linked Data

• dbSNP Id: rs1172822987
• gnomAD v2: 17-40693178-C-T
• COSMIC: COSM3517699
• MyVariant Identifiers: chr17:g.40693178C>T (hg19) ; chr17:g.42541160C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42541160C>T , CM000679.2:g.42541160C>T	GRCh38
NC_000017.10:g.40693178C>T , CM000679.1:g.40693178C>T	GRCh37
NC_000017.9:g.37946704C>T	NCBI36
NG_011552.1:g.10228C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.975C>T MANE Select	ENSP00000225927.1:p.Ser325=
ENST00000225927.6:c.975C>T	ENSP00000225927.1:p.Ser325=
ENST00000591587.1:c.360-1868C>T	ENSP00000467836.1:n.360-1868C>T
ENST00000592454.1:c.70C>T
NM_000263.3:c.975C>T	NP_000254.2:p.Ser325=
XM_006721920.2:c.144C>T	XP_006721983.1:p.Ser48=
XM_011524840.1:c.23-1868C>T	XP_011523142.1:n.23-1868C>T
XM_017024687.1:c.144C>T	XP_016880176.1:p.Ser48=
XM_024450771.1:c.1032C>T	XP_024306539.1:p.Ser344=
XM_024450772.1:c.23-1868C>T	XP_024306540.1:n.23-1868C>T
NM_000263.4:c.975C>T MANE Select	NP_000254.2:p.Ser325=