Canonical Allele Identifier: CA500217146

Gene: NAGLU

Linked Data

• dbSNP Id: rs1245312671
• gnomAD v2: 17-40695671-C-T
• MyVariant Identifiers: chr17:g.40695671C>T (hg19) ; chr17:g.42543653C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42543653C>T , CM000679.2:g.42543653C>T	GRCh38
NC_000017.10:g.40695671C>T , CM000679.1:g.40695671C>T	GRCh37
NC_000017.9:g.37949197C>T	NCBI36
NG_011552.1:g.12721C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.1647C>T MANE Select	ENSP00000225927.1:p.Ser549=
ENST00000225927.6:c.1647C>T	ENSP00000225927.1:p.Ser549=
ENST00000591587.1:c.985C>T	ENSP00000467836.1:n.985C>T
NM_000263.3:c.1647C>T	NP_000254.2:p.Ser549=
XM_006721920.2:c.816C>T	XP_006721983.1:p.Ser272=
XM_011524840.1:c.648C>T	XP_011523142.1:p.Ser216=
XM_017024687.1:c.816C>T	XP_016880176.1:p.Ser272=
XM_024450771.1:c.1704C>T	XP_024306539.1:p.Ser568=
XM_024450772.1:c.648C>T	XP_024306540.1:p.Ser216=
NM_000263.4:c.1647C>T MANE Select	NP_000254.2:p.Ser549=