Canonical Allele Identifier: CA8577104

Gene: NAGLU

Linked Data

• ClinVar Variation Id: 522823
• ClinVar RCV Id: RCV000625994 ; RCV000686454 ; RCV001030809 ; RCV001268050
• dbSNP Id: rs148881970
• ExAC: 17:40695858 A / G
• gnomAD v2: 17-40695858-A-G
• gnomAD v3: 17-42543840-A-G
• gnomAD v4: 17-42543840-A-G
• MyVariant Identifiers: chr17:g.40695858A>G (hg19) ; chr17:g.42543840A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42543840A>G , CM000679.2:g.42543840A>G	GRCh38
NC_000017.10:g.40695858A>G , CM000679.1:g.40695858A>G	GRCh37
NC_000017.9:g.37949384A>G	NCBI36
NG_011552.1:g.12908A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.1834A>G MANE Select	ENSP00000225927.1:p.Ser612Gly
ENST00000225927.6:c.1834A>G	ENSP00000225927.1:p.Ser612Gly
ENST00000591587.1:c.1172A>G	ENSP00000467836.1:n.1172A>G
NM_000263.3:c.1834A>G	NP_000254.2:p.Ser612Gly
XM_006721920.2:c.1003A>G	XP_006721983.1:p.Ser335Gly
XM_011524840.1:c.835A>G	XP_011523142.1:p.Ser279Gly
XM_017024687.1:c.1003A>G	XP_016880176.1:p.Ser335Gly
XM_024450771.1:c.1891A>G	XP_024306539.1:p.Ser631Gly
XM_024450772.1:c.835A>G	XP_024306540.1:p.Ser279Gly
NM_000263.4:c.1834A>G MANE Select	NP_000254.2:p.Ser612Gly