Canonical Allele Identifier: CA399598249

Gene: NAGLU

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42537517G>C , CM000679.2:g.42537517G>C	GRCh38
NC_000017.10:g.40689535G>C , CM000679.1:g.40689535G>C	GRCh37
NC_000017.9:g.37943061G>C	NCBI36
NG_011552.1:g.6585G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000263.4:c.503G>C MANE Select	NP_000254.2:p.Trp168Ser
ENST00000225927.7:c.503G>C MANE Select	ENSP00000225927.1:p.Trp168Ser
NM_000263.3:c.503G>C	NP_000254.2:p.Trp168Ser
ENST00000225927.6:c.503G>C	ENSP00000225927.1:p.Trp168Ser
ENST00000586516.5:c.134-822G>C
ENST00000590358.1:c.191G>C	ENSP00000466892.1:p.Trp64Ser
ENST00000591587.1:c.127-822G>C	ENSP00000467836.1:n.127-822G>C
XM_006721920.2:c.-240G>C	XP_006721983.1:n.-240G>C
XM_011524840.1:c.-240G>C	XP_011523142.1:n.-240G>C
XM_017024687.1:c.-240G>C	XP_016880176.1:n.-240G>C
XM_024450771.1:c.560G>C	XP_024306539.1:p.Trp187Ser
XM_024450772.1:c.-240G>C	XP_024306540.1:n.-240G>C