Canonical Allele Identifier: CA399598919

Gene: NAGLU

Linked Data

• ClinVar Variation Id: 1013390
• ClinVar RCV Id: RCV001311889
• dbSNP Id: rs104894601
• MyVariant Identifiers: chr17:g.40690709C>G (hg19) ; chr17:g.42538691C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42538691C>G , CM000679.2:g.42538691C>G	GRCh38
NC_000017.10:g.40690709C>G , CM000679.1:g.40690709C>G	GRCh37
NC_000017.9:g.37944235C>G	NCBI36
NG_011552.1:g.7759C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000225927.7:c.700C>G MANE Select	ENSP00000225927.1:p.Arg234Gly
ENST00000225927.6:c.700C>G	ENSP00000225927.1:p.Arg234Gly
ENST00000586516.5:c.302C>G
ENST00000591587.1:c.295C>G	ENSP00000467836.1:p.Arg99Gly
NM_000263.3:c.700C>G	NP_000254.2:p.Arg234Gly
XM_006721920.2:c.-43C>G	XP_006721983.1:n.-43C>G
XM_011524840.1:c.-43C>G	XP_011523142.1:n.-43C>G
XM_017024687.1:c.-43C>G	XP_016880176.1:n.-43C>G
XM_024450771.1:c.757C>G	XP_024306539.1:p.Arg253Gly
XM_024450772.1:c.-43C>G	XP_024306540.1:n.-43C>G
NM_000263.4:c.700C>G MANE Select	NP_000254.2:p.Arg234Gly