Canonical Allele Identifier: CA399601217

Gene: NAGLU

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42543150G>T , CM000679.2:g.42543150G>T	GRCh38
NC_000017.10:g.40695168G>T , CM000679.1:g.40695168G>T	GRCh37
NC_000017.9:g.37948694G>T	NCBI36
NG_011552.1:g.12218G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000263.4:c.1144G>T MANE Select	NP_000254.2:p.Asp382Tyr
ENST00000225927.7:c.1144G>T MANE Select	ENSP00000225927.1:p.Asp382Tyr
NM_000263.3:c.1144G>T	NP_000254.2:p.Asp382Tyr
ENST00000225927.6:c.1144G>T	ENSP00000225927.1:p.Asp382Tyr
ENST00000591587.1:c.482G>T	ENSP00000467836.1:n.482G>T
ENST00000592454.1:c.183G>T
XM_006721920.2:c.313G>T	XP_006721983.1:p.Asp105Tyr
XM_011524840.1:c.145G>T	XP_011523142.1:p.Asp49Tyr
XM_017024687.1:c.313G>T	XP_016880176.1:p.Asp105Tyr
XM_024450771.1:c.1201G>T	XP_024306539.1:p.Asp401Tyr
XM_024450772.1:c.145G>T	XP_024306540.1:p.Asp49Tyr