Canonical Allele Identifier: CA399598060

Gene: NAGLU

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42537433A>C , CM000679.2:g.42537433A>C	GRCh38
NC_000017.10:g.40689451A>C , CM000679.1:g.40689451A>C	GRCh37
NC_000017.9:g.37942977A>C	NCBI36
NG_011552.1:g.6501A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000263.4:c.419A>C MANE Select	NP_000254.2:p.Tyr140Ser
ENST00000225927.7:c.419A>C MANE Select	ENSP00000225927.1:p.Tyr140Ser
NM_000263.3:c.419A>C	NP_000254.2:p.Tyr140Ser
ENST00000225927.6:c.419A>C	ENSP00000225927.1:p.Tyr140Ser
ENST00000586516.5:c.133+778A>C
ENST00000590358.1:c.107A>C	ENSP00000466892.1:p.Tyr36Ser
ENST00000591587.1:c.126+778A>C	ENSP00000467836.1:n.126+778A>C
XM_006721920.2:c.-324A>C	XP_006721983.1:n.-324A>C
XM_011524840.1:c.-324A>C	XP_011523142.1:n.-324A>C
XM_017024687.1:c.-324A>C	XP_016880176.1:n.-324A>C
XM_024450771.1:c.476A>C	XP_024306539.1:p.Tyr159Ser
XM_024450772.1:c.-324A>C	XP_024306540.1:n.-324A>C