Canonical Allele Identifier: CA8577078

Gene: NAGLU

Linked Data

• dbSNP Id: rs754322727
• ExAC: 17:40695712 T / A
• gnomAD v2: 17-40695712-T-A
• gnomAD v4: 17-42543694-T-A
• MyVariant Identifiers: chr17:g.40695712T>A (hg19) ; chr17:g.42543694T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42543694T>A , CM000679.2:g.42543694T>A	GRCh38
NC_000017.10:g.40695712T>A , CM000679.1:g.40695712T>A	GRCh37
NC_000017.9:g.37949238T>A	NCBI36
NG_011552.1:g.12762T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.1688T>A MANE Select	ENSP00000225927.1:p.Leu563His
ENST00000225927.6:c.1688T>A	ENSP00000225927.1:p.Leu563His
ENST00000591587.1:c.1026T>A	ENSP00000467836.1:n.1026T>A
NM_000263.3:c.1688T>A	NP_000254.2:p.Leu563His
XM_006721920.2:c.857T>A	XP_006721983.1:p.Leu286His
XM_011524840.1:c.689T>A	XP_011523142.1:p.Leu230His
XM_017024687.1:c.857T>A	XP_016880176.1:p.Leu286His
XM_024450771.1:c.1745T>A	XP_024306539.1:p.Leu582His
XM_024450772.1:c.689T>A	XP_024306540.1:p.Leu230His
NM_000263.4:c.1688T>A MANE Select	NP_000254.2:p.Leu563His