Canonical Allele Identifier: CA399598142

Gene: NAGLU

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42537468C>T , CM000679.2:g.42537468C>T	GRCh38
NC_000017.10:g.40689486C>T , CM000679.1:g.40689486C>T	GRCh37
NC_000017.9:g.37943012C>T	NCBI36
NG_011552.1:g.6536C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000263.4:c.454C>T MANE Select	NP_000254.2:p.Arg152Ter
ENST00000225927.7:c.454C>T MANE Select	ENSP00000225927.1:p.Arg152Ter
NM_000263.3:c.454C>T	NP_000254.2:p.Arg152Ter
ENST00000225927.6:c.454C>T	ENSP00000225927.1:p.Arg152Ter
ENST00000586516.5:c.133+813C>T
ENST00000590358.1:c.142C>T	ENSP00000466892.1:p.Arg48Ter
ENST00000591587.1:c.126+813C>T	ENSP00000467836.1:n.126+813C>T
XM_006721920.2:c.-289C>T	XP_006721983.1:n.-289C>T
XM_011524840.1:c.-289C>T	XP_011523142.1:n.-289C>T
XM_017024687.1:c.-289C>T	XP_016880176.1:n.-289C>T
XM_024450771.1:c.511C>T	XP_024306539.1:p.Arg171Ter
XM_024450772.1:c.-289C>T	XP_024306540.1:n.-289C>T