Canonical Allele Identifier: CA399604258

Gene: NAGLU

Linked Data

• dbSNP Id: rs767597884
• gnomAD v3: 17-42543604-G-C
• gnomAD v4: 17-42543604-G-C
• MyVariant Identifiers: chr17:g.40695622G>C (hg19) ; chr17:g.42543604G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42543604G>C , CM000679.2:g.42543604G>C	GRCh38
NC_000017.10:g.40695622G>C , CM000679.1:g.40695622G>C	GRCh37
NC_000017.9:g.37949148G>C	NCBI36
NG_011552.1:g.12672G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.1598G>C MANE Select	ENSP00000225927.1:p.Arg533Pro
ENST00000225927.6:c.1598G>C	ENSP00000225927.1:p.Arg533Pro
ENST00000591587.1:c.936G>C	ENSP00000467836.1:n.936G>C
NM_000263.3:c.1598G>C	NP_000254.2:p.Arg533Pro
XM_006721920.2:c.767G>C	XP_006721983.1:p.Arg256Pro
XM_011524840.1:c.599G>C	XP_011523142.1:p.Arg200Pro
XM_017024687.1:c.767G>C	XP_016880176.1:p.Arg256Pro
XM_024450771.1:c.1655G>C	XP_024306539.1:p.Arg552Pro
XM_024450772.1:c.599G>C	XP_024306540.1:p.Arg200Pro
NM_000263.4:c.1598G>C MANE Select	NP_000254.2:p.Arg533Pro