Canonical Allele Identifier: CA399601933

Gene: NAGLU

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42543343A>G , CM000679.2:g.42543343A>G	GRCh38
NC_000017.10:g.40695361A>G , CM000679.1:g.40695361A>G	GRCh37
NC_000017.9:g.37948887A>G	NCBI36
NG_011552.1:g.12411A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000263.4:c.1337A>G MANE Select	NP_000254.2:p.Glu446Gly
ENST00000225927.7:c.1337A>G MANE Select	ENSP00000225927.1:p.Glu446Gly
NM_000263.3:c.1337A>G	NP_000254.2:p.Glu446Gly
ENST00000225927.6:c.1337A>G	ENSP00000225927.1:p.Glu446Gly
ENST00000591587.1:c.675A>G	ENSP00000467836.1:n.675A>G
ENST00000592454.1:c.376A>G
XM_006721920.2:c.506A>G	XP_006721983.1:p.Glu169Gly
XM_011524840.1:c.338A>G	XP_011523142.1:p.Glu113Gly
XM_017024687.1:c.506A>G	XP_016880176.1:p.Glu169Gly
XM_024450771.1:c.1394A>G	XP_024306539.1:p.Glu465Gly
XM_024450772.1:c.338A>G	XP_024306540.1:p.Glu113Gly