Canonical Allele Identifier: CA399600361

Gene: NAGLU

Linked Data

• COSMIC: COSM1325070
• MyVariant Identifiers: chr17:g.40693191G>A (hg19) ; chr17:g.42541173G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42541173G>A , CM000679.2:g.42541173G>A	GRCh38
NC_000017.10:g.40693191G>A , CM000679.1:g.40693191G>A	GRCh37
NC_000017.9:g.37946717G>A	NCBI36
NG_011552.1:g.10241G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.988G>A MANE Select	ENSP00000225927.1:p.Ala330Thr
ENST00000225927.6:c.988G>A	ENSP00000225927.1:p.Ala330Thr
ENST00000591587.1:c.360-1855G>A	ENSP00000467836.1:n.360-1855G>A
ENST00000592454.1:c.83G>A
NM_000263.3:c.988G>A	NP_000254.2:p.Ala330Thr
XM_006721920.2:c.157G>A	XP_006721983.1:p.Ala53Thr
XM_011524840.1:c.23-1855G>A	XP_011523142.1:n.23-1855G>A
XM_017024687.1:c.157G>A	XP_016880176.1:p.Ala53Thr
XM_024450771.1:c.1045G>A	XP_024306539.1:p.Ala349Thr
XM_024450772.1:c.23-1855G>A	XP_024306540.1:n.23-1855G>A
NM_000263.4:c.988G>A MANE Select	NP_000254.2:p.Ala330Thr