Canonical Allele Identifier: CA399600416

Gene: NAGLU

Linked Data

• ClinVar Variation Id: 1957386
• ClinVar RCV Id: RCV002720491
• dbSNP Id: rs1196007331
• gnomAD v4: 17-42541201-C-T
• MyVariant Identifiers: chr17:g.40693219C>T (hg19) ; chr17:g.42541201C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42541201C>T , CM000679.2:g.42541201C>T	GRCh38
NC_000017.10:g.40693219C>T , CM000679.1:g.40693219C>T	GRCh37
NC_000017.9:g.37946745C>T	NCBI36
NG_011552.1:g.10269C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.1016C>T MANE Select	ENSP00000225927.1:p.Thr339Ile
ENST00000225927.6:c.1016C>T	ENSP00000225927.1:p.Thr339Ile
ENST00000591587.1:c.360-1827C>T	ENSP00000467836.1:n.360-1827C>T
ENST00000592454.1:c.111C>T
NM_000263.3:c.1016C>T	NP_000254.2:p.Thr339Ile
XM_006721920.2:c.185C>T	XP_006721983.1:p.Thr62Ile
XM_011524840.1:c.23-1827C>T	XP_011523142.1:n.23-1827C>T
XM_017024687.1:c.185C>T	XP_016880176.1:p.Thr62Ile
XM_024450771.1:c.1073C>T	XP_024306539.1:p.Thr358Ile
XM_024450772.1:c.23-1827C>T	XP_024306540.1:n.23-1827C>T
NM_000263.4:c.1016C>T MANE Select	NP_000254.2:p.Thr339Ile