Canonical Allele Identifier: CA500216300

Gene: NAGLU

Linked Data

• ClinVar Variation Id: 2948811
• ClinVar RCV Id: RCV003809585
• gnomAD v4: 17-42538356-C-T
• MyVariant Identifiers: chr17:g.40690374C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42538356C>T , CM000679.2:g.42538356C>T	GRCh38
NC_000017.10:g.40690374C>T , CM000679.1:g.40690374C>T	GRCh37
NC_000017.9:g.37943900C>T	NCBI36
NG_011552.1:g.7424C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.549C>T MANE Select	ENSP00000225927.1:p.Gly183=
ENST00000225927.6:c.549C>T	ENSP00000225927.1:p.Gly183=
ENST00000586516.5:c.151C>T
ENST00000590358.1:c.237C>T	ENSP00000466892.1:p.Gly79=
ENST00000591587.1:c.144C>T	ENSP00000467836.1:p.Gly48=
NM_000263.3:c.549C>T	NP_000254.2:p.Gly183=
XM_006721920.2:c.-194C>T	XP_006721983.1:n.-194C>T
XM_011524840.1:c.-194C>T	XP_011523142.1:n.-194C>T
XM_017024687.1:c.-194C>T	XP_016880176.1:n.-194C>T
XM_024450771.1:c.606C>T	XP_024306539.1:p.Gly202=
XM_024450772.1:c.-194C>T	XP_024306540.1:n.-194C>T
NM_000263.4:c.549C>T MANE Select	NP_000254.2:p.Gly183=