Canonical Allele Identifier: CA500216933

Gene: NAGLU

Linked Data

• MyVariant Identifiers: chr17:g.40695431A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42543413A>C , CM000679.2:g.42543413A>C	GRCh38
NC_000017.10:g.40695431A>C , CM000679.1:g.40695431A>C	GRCh37
NC_000017.9:g.37948957A>C	NCBI36
NG_011552.1:g.12481A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000225927.7:c.1407A>C MANE Select	ENSP00000225927.1:p.Pro469=
ENST00000225927.6:c.1407A>C	ENSP00000225927.1:p.Pro469=
ENST00000591587.1:c.745A>C	ENSP00000467836.1:n.745A>C
ENST00000592454.1:c.446A>C
NM_000263.3:c.1407A>C	NP_000254.2:p.Pro469=
XM_006721920.2:c.576A>C	XP_006721983.1:p.Pro192=
XM_011524840.1:c.408A>C	XP_011523142.1:p.Pro136=
XM_017024687.1:c.576A>C	XP_016880176.1:p.Pro192=
XM_024450771.1:c.1464A>C	XP_024306539.1:p.Pro488=
XM_024450772.1:c.408A>C	XP_024306540.1:p.Pro136=
NM_000263.4:c.1407A>C MANE Select	NP_000254.2:p.Pro469=