Canonical Allele Identifier: CA399606263

Gene: NAGLU

Linked Data

• ClinVar Variation Id: 891696
• ClinVar RCV Id: RCV001127139
• dbSNP Id: rs2092930793
• gnomAD v4: 17-42544152-C-T
• MyVariant Identifiers: chr17:g.40696170C>T (hg19) ; chr17:g.42544152C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42544152C>T , CM000679.2:g.42544152C>T	GRCh38
NC_000017.10:g.40696170C>T , CM000679.1:g.40696170C>T	GRCh37
NC_000017.9:g.37949696C>T	NCBI36
NG_011552.1:g.13220C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.2146C>T MANE Select	ENSP00000225927.1:p.Pro716Ser
ENST00000225927.6:c.2146C>T	ENSP00000225927.1:p.Pro716Ser
ENST00000591587.1:c.1484C>T	ENSP00000467836.1:n.1484C>T
NM_000263.3:c.2146C>T	NP_000254.2:p.Pro716Ser
XM_006721920.2:c.1315C>T	XP_006721983.1:p.Pro439Ser
XM_011524840.1:c.1147C>T	XP_011523142.1:p.Pro383Ser
XM_017024687.1:c.1315C>T	XP_016880176.1:p.Pro439Ser
XM_024450771.1:c.2203C>T	XP_024306539.1:p.Pro735Ser
XM_024450772.1:c.1147C>T	XP_024306540.1:p.Pro383Ser
NM_000263.4:c.2146C>T MANE Select	NP_000254.2:p.Pro716Ser