Canonical Allele Identifier: CA2637970101

Gene: NAGLU

Linked Data

• gnomAD v4: 17-42541294-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42541294G>A , CM000679.2:g.42541294G>A	GRCh38
NC_000017.10:g.40693312G>A , CM000679.1:g.40693312G>A	GRCh37
NC_000017.9:g.37946838G>A	NCBI36
NG_011552.1:g.10362G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.1021+88G>A MANE Select	ENSP00000225927.1:n.1021+88G>A
ENST00000225927.6:c.1021+88G>A	ENSP00000225927.1:n.1021+88G>A
ENST00000591587.1:c.360-1734G>A	ENSP00000467836.1:n.360-1734G>A
ENST00000592454.1:c.116+88G>A
NM_000263.3:c.1021+88G>A	NP_000254.2:n.1021+88G>A
XM_006721920.2:c.190+88G>A	XP_006721983.1:n.190+88G>A
XM_011524840.1:c.23-1734G>A	XP_011523142.1:n.23-1734G>A
XM_017024687.1:c.190+88G>A	XP_016880176.1:n.190+88G>A
XM_024450771.1:c.1078+88G>A	XP_024306539.1:n.1078+88G>A
XM_024450772.1:c.23-1734G>A	XP_024306540.1:n.23-1734G>A
NM_000263.4:c.1021+88G>A MANE Select	NP_000254.2:n.1021+88G>A