Canonical Allele Identifier: CA399606226

Gene: NAGLU

Linked Data

• ClinVar Variation Id: 1394554
• ClinVar RCV Id: RCV001900931
• dbSNP Id: rs1482294617
• gnomAD v2: 17-40696155-A-G
• gnomAD v4: 17-42544137-A-G
• MyVariant Identifiers: chr17:g.40696155A>G (hg19) ; chr17:g.42544137A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42544137A>G , CM000679.2:g.42544137A>G	GRCh38
NC_000017.10:g.40696155A>G , CM000679.1:g.40696155A>G	GRCh37
NC_000017.9:g.37949681A>G	NCBI36
NG_011552.1:g.13205A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.2131A>G MANE Select	ENSP00000225927.1:p.Ser711Gly
ENST00000225927.6:c.2131A>G	ENSP00000225927.1:p.Ser711Gly
ENST00000591587.1:c.1469A>G	ENSP00000467836.1:n.1469A>G
NM_000263.3:c.2131A>G	NP_000254.2:p.Ser711Gly
XM_006721920.2:c.1300A>G	XP_006721983.1:p.Ser434Gly
XM_011524840.1:c.1132A>G	XP_011523142.1:p.Ser378Gly
XM_017024687.1:c.1300A>G	XP_016880176.1:p.Ser434Gly
XM_024450771.1:c.2188A>G	XP_024306539.1:p.Ser730Gly
XM_024450772.1:c.1132A>G	XP_024306540.1:p.Ser378Gly
NM_000263.4:c.2131A>G MANE Select	NP_000254.2:p.Ser711Gly