Canonical Allele Identifier: CA399605463

Gene: NAGLU

Linked Data

• dbSNP Id: rs2092929711
• gnomAD v4: 17-42543922-A-G
• MyVariant Identifiers: chr17:g.40695940A>G (hg19) ; chr17:g.42543922A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42543922A>G , CM000679.2:g.42543922A>G	GRCh38
NC_000017.10:g.40695940A>G , CM000679.1:g.40695940A>G	GRCh37
NC_000017.9:g.37949466A>G	NCBI36
NG_011552.1:g.12990A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.1916A>G MANE Select	ENSP00000225927.1:p.Glu639Gly
ENST00000225927.6:c.1916A>G	ENSP00000225927.1:p.Glu639Gly
ENST00000591587.1:c.1254A>G	ENSP00000467836.1:n.1254A>G
NM_000263.3:c.1916A>G	NP_000254.2:p.Glu639Gly
XM_006721920.2:c.1085A>G	XP_006721983.1:p.Glu362Gly
XM_011524840.1:c.917A>G	XP_011523142.1:p.Glu306Gly
XM_017024687.1:c.1085A>G	XP_016880176.1:p.Glu362Gly
XM_024450771.1:c.1973A>G	XP_024306539.1:p.Glu658Gly
XM_024450772.1:c.917A>G	XP_024306540.1:p.Glu306Gly
NM_000263.4:c.1916A>G MANE Select	NP_000254.2:p.Glu639Gly