Canonical Allele Identifier: CA399598057

Gene: NAGLU

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42537432T>A , CM000679.2:g.42537432T>A	GRCh38
NC_000017.10:g.40689450T>A , CM000679.1:g.40689450T>A	GRCh37
NC_000017.9:g.37942976T>A	NCBI36
NG_011552.1:g.6500T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000263.4:c.418T>A MANE Select	NP_000254.2:p.Tyr140Asn
ENST00000225927.7:c.418T>A MANE Select	ENSP00000225927.1:p.Tyr140Asn
NM_000263.3:c.418T>A	NP_000254.2:p.Tyr140Asn
ENST00000225927.6:c.418T>A	ENSP00000225927.1:p.Tyr140Asn
ENST00000586516.5:c.133+777T>A
ENST00000590358.1:c.106T>A	ENSP00000466892.1:p.Tyr36Asn
ENST00000591587.1:c.126+777T>A	ENSP00000467836.1:n.126+777T>A
XM_006721920.2:c.-325T>A	XP_006721983.1:n.-325T>A
XM_011524840.1:c.-325T>A	XP_011523142.1:n.-325T>A
XM_017024687.1:c.-325T>A	XP_016880176.1:n.-325T>A
XM_024450771.1:c.475T>A	XP_024306539.1:p.Tyr159Asn
XM_024450772.1:c.-325T>A	XP_024306540.1:n.-325T>A