Canonical Allele Identifier: CA399601767

Gene: NAGLU

Linked Data

• MyVariant Identifiers: chr17:g.40695318C>G (hg19) ; chr17:g.42543300C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42543300C>G , CM000679.2:g.42543300C>G	GRCh38
NC_000017.10:g.40695318C>G , CM000679.1:g.40695318C>G	GRCh37
NC_000017.9:g.37948844C>G	NCBI36
NG_011552.1:g.12368C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.1294C>G MANE Select	ENSP00000225927.1:p.Leu432Val
ENST00000225927.6:c.1294C>G	ENSP00000225927.1:p.Leu432Val
ENST00000591587.1:c.632C>G	ENSP00000467836.1:n.632C>G
ENST00000592454.1:c.333C>G
NM_000263.3:c.1294C>G	NP_000254.2:p.Leu432Val
XM_006721920.2:c.463C>G	XP_006721983.1:p.Leu155Val
XM_011524840.1:c.295C>G	XP_011523142.1:p.Leu99Val
XM_017024687.1:c.463C>G	XP_016880176.1:p.Leu155Val
XM_024450771.1:c.1351C>G	XP_024306539.1:p.Leu451Val
XM_024450772.1:c.295C>G	XP_024306540.1:p.Leu99Val
NM_000263.4:c.1294C>G MANE Select	NP_000254.2:p.Leu432Val