Canonical Allele Identifier: CA500217287

Gene: NAGLU

Linked Data

• ClinVar Variation Id: 1153367
• ClinVar RCV Id: RCV001495020
• dbSNP Id: rs1410332176
• gnomAD v2: 17-40695767-C-T
• gnomAD v3: 17-42543749-C-T
• gnomAD v4: 17-42543749-C-T
• MyVariant Identifiers: chr17:g.40695767C>T (hg19) ; chr17:g.42543749C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42543749C>T , CM000679.2:g.42543749C>T	GRCh38
NC_000017.10:g.40695767C>T , CM000679.1:g.40695767C>T	GRCh37
NC_000017.9:g.37949293C>T	NCBI36
NG_011552.1:g.12817C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.1743C>T MANE Select	ENSP00000225927.1:p.Ser581=
ENST00000225927.6:c.1743C>T	ENSP00000225927.1:p.Ser581=
ENST00000591587.1:c.1081C>T	ENSP00000467836.1:n.1081C>T
NM_000263.3:c.1743C>T	NP_000254.2:p.Ser581=
XM_006721920.2:c.912C>T	XP_006721983.1:p.Ser304=
XM_011524840.1:c.744C>T	XP_011523142.1:p.Ser248=
XM_017024687.1:c.912C>T	XP_016880176.1:p.Ser304=
XM_024450771.1:c.1800C>T	XP_024306539.1:p.Ser600=
XM_024450772.1:c.744C>T	XP_024306540.1:p.Ser248=
NM_000263.4:c.1743C>T MANE Select	NP_000254.2:p.Ser581=