Canonical Allele Identifier: CA399601360

Gene: NAGLU

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42543195T>G , CM000679.2:g.42543195T>G	GRCh38
NC_000017.10:g.40695213T>G , CM000679.1:g.40695213T>G	GRCh37
NC_000017.9:g.37948739T>G	NCBI36
NG_011552.1:g.12263T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000263.4:c.1189T>G MANE Select	NP_000254.2:p.Phe397Val
ENST00000225927.7:c.1189T>G MANE Select	ENSP00000225927.1:p.Phe397Val
NM_000263.3:c.1189T>G	NP_000254.2:p.Phe397Val
ENST00000225927.6:c.1189T>G	ENSP00000225927.1:p.Phe397Val
ENST00000591587.1:c.527T>G	ENSP00000467836.1:n.527T>G
ENST00000592454.1:c.228T>G
XM_006721920.2:c.358T>G	XP_006721983.1:p.Phe120Val
XM_011524840.1:c.190T>G	XP_011523142.1:p.Phe64Val
XM_017024687.1:c.358T>G	XP_016880176.1:p.Phe120Val
XM_024450771.1:c.1246T>G	XP_024306539.1:p.Phe416Val
XM_024450772.1:c.190T>G	XP_024306540.1:p.Phe64Val