Canonical Allele Identifier: CA399606019

Gene: NAGLU

Linked Data

• ClinVar Variation Id: 2148156
• ClinVar RCV Id: RCV003068709
• gnomAD v4: 17-42544060-G-C
• MyVariant Identifiers: chr17:g.40696078G>C (hg19) ; chr17:g.42544060G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42544060G>C , CM000679.2:g.42544060G>C	GRCh38
NC_000017.10:g.40696078G>C , CM000679.1:g.40696078G>C	GRCh37
NC_000017.9:g.37949604G>C	NCBI36
NG_011552.1:g.13128G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.2054G>C MANE Select	ENSP00000225927.1:p.Ser685Thr
ENST00000225927.6:c.2054G>C	ENSP00000225927.1:p.Ser685Thr
ENST00000591587.1:c.1392G>C	ENSP00000467836.1:n.1392G>C
NM_000263.3:c.2054G>C	NP_000254.2:p.Ser685Thr
XM_006721920.2:c.1223G>C	XP_006721983.1:p.Ser408Thr
XM_011524840.1:c.1055G>C	XP_011523142.1:p.Ser352Thr
XM_017024687.1:c.1223G>C	XP_016880176.1:p.Ser408Thr
XM_024450771.1:c.2111G>C	XP_024306539.1:p.Ser704Thr
XM_024450772.1:c.1055G>C	XP_024306540.1:p.Ser352Thr
NM_000263.4:c.2054G>C MANE Select	NP_000254.2:p.Ser685Thr