Canonical Allele Identifier: CA399598148

Gene: NAGLU

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42537471G>T , CM000679.2:g.42537471G>T	GRCh38
NC_000017.10:g.40689489G>T , CM000679.1:g.40689489G>T	GRCh37
NC_000017.9:g.37943015G>T	NCBI36
NG_011552.1:g.6539G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000263.4:c.457G>T MANE Select	NP_000254.2:p.Glu153Ter
ENST00000225927.7:c.457G>T MANE Select	ENSP00000225927.1:p.Glu153Ter
NM_000263.3:c.457G>T	NP_000254.2:p.Glu153Ter
ENST00000225927.6:c.457G>T	ENSP00000225927.1:p.Glu153Ter
ENST00000586516.5:c.133+816G>T
ENST00000590358.1:c.145G>T	ENSP00000466892.1:p.Glu49Ter
ENST00000591587.1:c.126+816G>T	ENSP00000467836.1:n.126+816G>T
XM_006721920.2:c.-286G>T	XP_006721983.1:n.-286G>T
XM_011524840.1:c.-286G>T	XP_011523142.1:n.-286G>T
XM_017024687.1:c.-286G>T	XP_016880176.1:n.-286G>T
XM_024450771.1:c.514G>T	XP_024306539.1:p.Glu172Ter
XM_024450772.1:c.-286G>T	XP_024306540.1:n.-286G>T