Canonical Allele Identifier: CA8577008

Gene: NAGLU

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42543370A>C , CM000679.2:g.42543370A>C	GRCh38
NC_000017.10:g.40695388A>C , CM000679.1:g.40695388A>C	GRCh37
NC_000017.9:g.37948914A>C	NCBI36
NG_011552.1:g.12438A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000263.4:c.1364A>C MANE Select	NP_000254.2:p.Tyr455Ser
ENST00000225927.7:c.1364A>C MANE Select	ENSP00000225927.1:p.Tyr455Ser
NM_000263.3:c.1364A>C	NP_000254.2:p.Tyr455Ser
ENST00000225927.6:c.1364A>C	ENSP00000225927.1:p.Tyr455Ser
ENST00000591587.1:c.702A>C	ENSP00000467836.1:n.702A>C
ENST00000592454.1:c.403A>C
XM_006721920.2:c.533A>C	XP_006721983.1:p.Tyr178Ser
XM_011524840.1:c.365A>C	XP_011523142.1:p.Tyr122Ser
XM_017024687.1:c.533A>C	XP_016880176.1:p.Tyr178Ser
XM_024450771.1:c.1421A>C	XP_024306539.1:p.Tyr474Ser
XM_024450772.1:c.365A>C	XP_024306540.1:p.Tyr122Ser