Canonical Allele Identifier: CA500216852

Gene: NAGLU

Linked Data

• MyVariant Identifiers: chr17:g.40695305A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42543287A>C , CM000679.2:g.42543287A>C	GRCh38
NC_000017.10:g.40695305A>C , CM000679.1:g.40695305A>C	GRCh37
NC_000017.9:g.37948831A>C	NCBI36
NG_011552.1:g.12355A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.1281A>C MANE Select	ENSP00000225927.1:p.Pro427=
ENST00000225927.6:c.1281A>C	ENSP00000225927.1:p.Pro427=
ENST00000591587.1:c.619A>C	ENSP00000467836.1:n.619A>C
ENST00000592454.1:c.320A>C
NM_000263.3:c.1281A>C	NP_000254.2:p.Pro427=
XM_006721920.2:c.450A>C	XP_006721983.1:p.Pro150=
XM_011524840.1:c.282A>C	XP_011523142.1:p.Pro94=
XM_017024687.1:c.450A>C	XP_016880176.1:p.Pro150=
XM_024450771.1:c.1338A>C	XP_024306539.1:p.Pro446=
XM_024450772.1:c.282A>C	XP_024306540.1:p.Pro94=
NM_000263.4:c.1281A>C MANE Select	NP_000254.2:p.Pro427=