Canonical Allele Identifier: CA399600242

Gene: NAGLU

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42541119G>C , CM000679.2:g.42541119G>C	GRCh38
NC_000017.10:g.40693137G>C , CM000679.1:g.40693137G>C	GRCh37
NC_000017.9:g.37946663G>C	NCBI36
NG_011552.1:g.10187G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000263.4:c.934G>C MANE Select	NP_000254.2:p.Asp312His
ENST00000225927.7:c.934G>C MANE Select	ENSP00000225927.1:p.Asp312His
NM_000263.3:c.934G>C	NP_000254.2:p.Asp312His
ENST00000225927.6:c.934G>C	ENSP00000225927.1:p.Asp312His
ENST00000591587.1:c.360-1909G>C	ENSP00000467836.1:n.360-1909G>C
ENST00000592454.1:c.29G>C
XM_006721920.2:c.103G>C	XP_006721983.1:p.Asp35His
XM_011524840.1:c.23-1909G>C	XP_011523142.1:n.23-1909G>C
XM_017024687.1:c.103G>C	XP_016880176.1:p.Asp35His
XM_024450771.1:c.991G>C	XP_024306539.1:p.Asp331His
XM_024450772.1:c.23-1909G>C	XP_024306540.1:n.23-1909G>C