Canonical Allele Identifier: CA399598523

Gene: NAGLU

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42538414C>T , CM000679.2:g.42538414C>T	GRCh38
NC_000017.10:g.40690432C>T , CM000679.1:g.40690432C>T	GRCh37
NC_000017.9:g.37943958C>T	NCBI36
NG_011552.1:g.7482C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000263.4:c.607C>T MANE Select	NP_000254.2:p.Arg203Ter
ENST00000225927.7:c.607C>T MANE Select	ENSP00000225927.1:p.Arg203Ter
NM_000263.3:c.607C>T	NP_000254.2:p.Arg203Ter
ENST00000225927.6:c.607C>T	ENSP00000225927.1:p.Arg203Ter
ENST00000586516.5:c.209C>T
ENST00000591587.1:c.202C>T	ENSP00000467836.1:p.Arg68Ter
XM_006721920.2:c.-136C>T	XP_006721983.1:n.-136C>T
XM_011524840.1:c.-136C>T	XP_011523142.1:n.-136C>T
XM_017024687.1:c.-136C>T	XP_016880176.1:n.-136C>T
XM_024450771.1:c.664C>T	XP_024306539.1:p.Arg222Ter
XM_024450772.1:c.-136C>T	XP_024306540.1:n.-136C>T