Canonical Allele Identifier: CA8576980

Gene: NAGLU

Genomic Alleles

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

Transcript Alleles

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