Canonical Allele Identifier: CA500216576

Gene: NAGLU

Linked Data

• ClinVar Variation Id: 1575985
• ClinVar RCV Id: RCV002075490
• dbSNP Id: rs2143098501
• gnomAD v4: 17-42541028-G-C
• MyVariant Identifiers: chr17:g.40693046G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42541028G>C , CM000679.2:g.42541028G>C	GRCh38
NC_000017.10:g.40693046G>C , CM000679.1:g.40693046G>C	GRCh37
NC_000017.9:g.37946572G>C	NCBI36
NG_011552.1:g.10096G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000225927.7:c.843G>C MANE Select	ENSP00000225927.1:p.Leu281=
ENST00000225927.6:c.843G>C	ENSP00000225927.1:p.Leu281=
ENST00000586516.5:c.445G>C
ENST00000591587.1:c.360-2000G>C	ENSP00000467836.1:n.360-2000G>C
NM_000263.3:c.843G>C	NP_000254.2:p.Leu281=
XM_006721920.2:c.23-11G>C	XP_006721983.1:n.23-11G>C
XM_011524840.1:c.23-2000G>C	XP_011523142.1:n.23-2000G>C
XM_017024687.1:c.23-11G>C	XP_016880176.1:n.23-11G>C
XM_024450771.1:c.900G>C	XP_024306539.1:p.Leu300=
XM_024450772.1:c.23-2000G>C	XP_024306540.1:n.23-2000G>C
NM_000263.4:c.843G>C MANE Select	NP_000254.2:p.Leu281=