Canonical Allele Identifier: CA399604358

Gene: NAGLU

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42543655T>C , CM000679.2:g.42543655T>C	GRCh38
NC_000017.10:g.40695673T>C , CM000679.1:g.40695673T>C	GRCh37
NC_000017.9:g.37949199T>C	NCBI36
NG_011552.1:g.12723T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000263.4:c.1649T>C MANE Select	NP_000254.2:p.Leu550Pro
ENST00000225927.7:c.1649T>C MANE Select	ENSP00000225927.1:p.Leu550Pro
NM_000263.3:c.1649T>C	NP_000254.2:p.Leu550Pro
ENST00000225927.6:c.1649T>C	ENSP00000225927.1:p.Leu550Pro
ENST00000591587.1:c.987T>C	ENSP00000467836.1:n.987T>C
XM_006721920.2:c.818T>C	XP_006721983.1:p.Leu273Pro
XM_011524840.1:c.650T>C	XP_011523142.1:p.Leu217Pro
XM_017024687.1:c.818T>C	XP_016880176.1:p.Leu273Pro
XM_024450771.1:c.1706T>C	XP_024306539.1:p.Leu569Pro
XM_024450772.1:c.650T>C	XP_024306540.1:p.Leu217Pro