Canonical Allele Identifier: CA8576771

Gene: NAGLU

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42537475T>C , CM000679.2:g.42537475T>C	GRCh38
NC_000017.10:g.40689493T>C , CM000679.1:g.40689493T>C	GRCh37
NC_000017.9:g.37943019T>C	NCBI36
NG_011552.1:g.6543T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000263.4:c.461T>C MANE Select	NP_000254.2:p.Ile154Thr
ENST00000225927.7:c.461T>C MANE Select	ENSP00000225927.1:p.Ile154Thr
NM_000263.3:c.461T>C	NP_000254.2:p.Ile154Thr
ENST00000225927.6:c.461T>C	ENSP00000225927.1:p.Ile154Thr
ENST00000586516.5:c.133+820T>C
ENST00000590358.1:c.149T>C	ENSP00000466892.1:p.Ile50Thr
ENST00000591587.1:c.126+820T>C	ENSP00000467836.1:n.126+820T>C
XM_006721920.2:c.-282T>C	XP_006721983.1:n.-282T>C
XM_011524840.1:c.-282T>C	XP_011523142.1:n.-282T>C
XM_017024687.1:c.-282T>C	XP_016880176.1:n.-282T>C
XM_024450771.1:c.518T>C	XP_024306539.1:p.Ile173Thr
XM_024450772.1:c.-282T>C	XP_024306540.1:n.-282T>C