Canonical Allele Identifier: CA290778927

Gene: NAGLU

Linked Data

• ClinVar Variation Id: 1290718
• ClinVar RCV Id: RCV001716684
• dbSNP Id: rs61661047
• gnomAD v2: 17-40693324-C-T
• gnomAD v3: 17-42541306-C-T
• gnomAD v4: 17-42541306-C-T
• MyVariant Identifiers: chr17:g.40693324C>T (hg19) ; chr17:g.42541306C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42541306C>T , CM000679.2:g.42541306C>T	GRCh38
NC_000017.10:g.40693324C>T , CM000679.1:g.40693324C>T	GRCh37
NC_000017.9:g.37946850C>T	NCBI36
NG_011552.1:g.10374C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.1021+100C>T MANE Select	ENSP00000225927.1:n.1021+100C>T
ENST00000225927.6:c.1021+100C>T	ENSP00000225927.1:n.1021+100C>T
ENST00000591587.1:c.360-1722C>T	ENSP00000467836.1:n.360-1722C>T
ENST00000592454.1:c.116+100C>T
NM_000263.3:c.1021+100C>T	NP_000254.2:n.1021+100C>T
XM_006721920.2:c.190+100C>T	XP_006721983.1:n.190+100C>T
XM_011524840.1:c.23-1722C>T	XP_011523142.1:n.23-1722C>T
XM_017024687.1:c.190+100C>T	XP_016880176.1:n.190+100C>T
XM_024450771.1:c.1078+100C>T	XP_024306539.1:n.1078+100C>T
XM_024450772.1:c.23-1722C>T	XP_024306540.1:n.23-1722C>T
NM_000263.4:c.1021+100C>T MANE Select	NP_000254.2:n.1021+100C>T