Canonical Allele Identifier: CA399606468

Gene: NAGLU

Linked Data

• gnomAD v4: 17-42544213-C-G
• MyVariant Identifiers: chr17:g.40696231C>G (hg19) ; chr17:g.42544213C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42544213C>G , CM000679.2:g.42544213C>G	GRCh38
NC_000017.10:g.40696231C>G , CM000679.1:g.40696231C>G	GRCh37
NC_000017.9:g.37949757C>G	NCBI36
NG_011552.1:g.13281C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.2207C>G MANE Select	ENSP00000225927.1:p.Pro736Arg
ENST00000225927.6:c.2207C>G	ENSP00000225927.1:p.Pro736Arg
NM_000263.3:c.2207C>G	NP_000254.2:p.Pro736Arg
XM_006721920.2:c.1376C>G	XP_006721983.1:p.Pro459Arg
XM_011524840.1:c.1208C>G	XP_011523142.1:p.Pro403Arg
XM_017024687.1:c.1376C>G	XP_016880176.1:p.Pro459Arg
XM_024450771.1:c.2264C>G	XP_024306539.1:p.Pro755Arg
XM_024450772.1:c.1208C>G	XP_024306540.1:p.Pro403Arg
NM_000263.4:c.2207C>G MANE Select	NP_000254.2:p.Pro736Arg