Canonical Allele Identifier: CA399601462

Gene: NAGLU

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42543218G>T , CM000679.2:g.42543218G>T	GRCh38
NC_000017.10:g.40695236G>T , CM000679.1:g.40695236G>T	GRCh37
NC_000017.9:g.37948762G>T	NCBI36
NG_011552.1:g.12286G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000263.4:c.1212G>T MANE Select	NP_000254.2:p.Trp404Cys
ENST00000225927.7:c.1212G>T MANE Select	ENSP00000225927.1:p.Trp404Cys
NM_000263.3:c.1212G>T	NP_000254.2:p.Trp404Cys
ENST00000225927.6:c.1212G>T	ENSP00000225927.1:p.Trp404Cys
ENST00000591587.1:c.550G>T	ENSP00000467836.1:n.550G>T
ENST00000592454.1:c.251G>T
XM_006721920.2:c.381G>T	XP_006721983.1:p.Trp127Cys
XM_011524840.1:c.213G>T	XP_011523142.1:p.Trp71Cys
XM_017024687.1:c.381G>T	XP_016880176.1:p.Trp127Cys
XM_024450771.1:c.1269G>T	XP_024306539.1:p.Trp423Cys
XM_024450772.1:c.213G>T	XP_024306540.1:p.Trp71Cys