Canonical Allele Identifier: CA8576955

Gene: NAGLU

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42543087T>C , CM000679.2:g.42543087T>C	GRCh38
NC_000017.10:g.40695105T>C , CM000679.1:g.40695105T>C	GRCh37
NC_000017.9:g.37948631T>C	NCBI36
NG_011552.1:g.12155T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000263.4:c.1081T>C MANE Select	NP_000254.2:p.Trp361Arg
ENST00000225927.7:c.1081T>C MANE Select	ENSP00000225927.1:p.Trp361Arg
NM_000263.3:c.1081T>C	NP_000254.2:p.Trp361Arg
ENST00000225927.6:c.1081T>C	ENSP00000225927.1:p.Trp361Arg
ENST00000591587.1:c.419T>C	ENSP00000467836.1:n.419T>C
ENST00000592454.1:c.120T>C
XM_006721920.2:c.250T>C	XP_006721983.1:p.Trp84Arg
XM_011524840.1:c.82T>C	XP_011523142.1:p.Trp28Arg
XM_017024687.1:c.250T>C	XP_016880176.1:p.Trp84Arg
XM_024450771.1:c.1138T>C	XP_024306539.1:p.Trp380Arg
XM_024450772.1:c.82T>C	XP_024306540.1:p.Trp28Arg