Canonical Allele Identifier: CA399606556

Gene: NAGLU

Linked Data

• MyVariant Identifiers: chr17:g.40696252G>C (hg19) ; chr17:g.42544234G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42544234G>C , CM000679.2:g.42544234G>C	GRCh38
NC_000017.10:g.40696252G>C , CM000679.1:g.40696252G>C	GRCh37
NC_000017.9:g.37949778G>C	NCBI36
NG_011552.1:g.13302G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.2228G>C MANE Select	ENSP00000225927.1:p.Trp743Ser
ENST00000225927.6:c.2228G>C	ENSP00000225927.1:p.Trp743Ser
NM_000263.3:c.2228G>C	NP_000254.2:p.Trp743Ser
XM_006721920.2:c.1397G>C	XP_006721983.1:p.Trp466Ser
XM_011524840.1:c.1229G>C	XP_011523142.1:p.Trp410Ser
XM_017024687.1:c.1397G>C	XP_016880176.1:p.Trp466Ser
XM_024450771.1:c.2285G>C	XP_024306539.1:p.Trp762Ser
XM_024450772.1:c.1229G>C	XP_024306540.1:p.Trp410Ser
NM_000263.4:c.2228G>C MANE Select	NP_000254.2:p.Trp743Ser