Canonical Allele Identifier: CA399600349

Gene: NAGLU

Linked Data

• MyVariant Identifiers: chr17:g.40693185G>A (hg19) ; chr17:g.42541167G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42541167G>A , CM000679.2:g.42541167G>A	GRCh38
NC_000017.10:g.40693185G>A , CM000679.1:g.40693185G>A	GRCh37
NC_000017.9:g.37946711G>A	NCBI36
NG_011552.1:g.10235G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.982G>A MANE Select	ENSP00000225927.1:p.Ala328Thr
ENST00000225927.6:c.982G>A	ENSP00000225927.1:p.Ala328Thr
ENST00000591587.1:c.360-1861G>A	ENSP00000467836.1:n.360-1861G>A
ENST00000592454.1:c.77G>A
NM_000263.3:c.982G>A	NP_000254.2:p.Ala328Thr
XM_006721920.2:c.151G>A	XP_006721983.1:p.Ala51Thr
XM_011524840.1:c.23-1861G>A	XP_011523142.1:n.23-1861G>A
XM_017024687.1:c.151G>A	XP_016880176.1:p.Ala51Thr
XM_024450771.1:c.1039G>A	XP_024306539.1:p.Ala347Thr
XM_024450772.1:c.23-1861G>A	XP_024306540.1:n.23-1861G>A
NM_000263.4:c.982G>A MANE Select	NP_000254.2:p.Ala328Thr