Canonical Allele Identifier: CA399602373

Gene: NAGLU

Linked Data

• MyVariant Identifiers: chr17:g.40695435T>A (hg19) ; chr17:g.42543417T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42543417T>A , CM000679.2:g.42543417T>A	GRCh38
NC_000017.10:g.40695435T>A , CM000679.1:g.40695435T>A	GRCh37
NC_000017.9:g.37948961T>A	NCBI36
NG_011552.1:g.12485T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000225927.7:c.1411T>A MANE Select	ENSP00000225927.1:p.Leu471Met
ENST00000225927.6:c.1411T>A	ENSP00000225927.1:p.Leu471Met
ENST00000591587.1:c.749T>A	ENSP00000467836.1:n.749T>A
ENST00000592454.1:c.450T>A
NM_000263.3:c.1411T>A	NP_000254.2:p.Leu471Met
XM_006721920.2:c.580T>A	XP_006721983.1:p.Leu194Met
XM_011524840.1:c.412T>A	XP_011523142.1:p.Leu138Met
XM_017024687.1:c.580T>A	XP_016880176.1:p.Leu194Met
XM_024450771.1:c.1468T>A	XP_024306539.1:p.Leu490Met
XM_024450772.1:c.412T>A	XP_024306540.1:p.Leu138Met
NM_000263.4:c.1411T>A MANE Select	NP_000254.2:p.Leu471Met