Canonical Allele Identifier: CA2637970053

Gene: NAGLU

Linked Data

• ClinVar Variation Id: 2947675
• ClinVar RCV Id: RCV003804305
• gnomAD v4: 17-42541219-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42541219G>C , CM000679.2:g.42541219G>C	GRCh38
NC_000017.10:g.40693237G>C , CM000679.1:g.40693237G>C	GRCh37
NC_000017.9:g.37946763G>C	NCBI36
NG_011552.1:g.10287G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.1021+13G>C MANE Select	ENSP00000225927.1:n.1021+13G>C
ENST00000225927.6:c.1021+13G>C	ENSP00000225927.1:n.1021+13G>C
ENST00000591587.1:c.360-1809G>C	ENSP00000467836.1:n.360-1809G>C
ENST00000592454.1:c.116+13G>C
NM_000263.3:c.1021+13G>C	NP_000254.2:n.1021+13G>C
XM_006721920.2:c.190+13G>C	XP_006721983.1:n.190+13G>C
XM_011524840.1:c.23-1809G>C	XP_011523142.1:n.23-1809G>C
XM_017024687.1:c.190+13G>C	XP_016880176.1:n.190+13G>C
XM_024450771.1:c.1078+13G>C	XP_024306539.1:n.1078+13G>C
XM_024450772.1:c.23-1809G>C	XP_024306540.1:n.23-1809G>C
NM_000263.4:c.1021+13G>C MANE Select	NP_000254.2:n.1021+13G>C