Canonical Allele Identifier: CA399605981

Gene: NAGLU

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42544050C>G , CM000679.2:g.42544050C>G	GRCh38
NC_000017.10:g.40696068C>G , CM000679.1:g.40696068C>G	GRCh37
NC_000017.9:g.37949594C>G	NCBI36
NG_011552.1:g.13118C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000263.4:c.2044C>G MANE Select	NP_000254.2:p.Leu682Val
ENST00000225927.7:c.2044C>G MANE Select	ENSP00000225927.1:p.Leu682Val
NM_000263.3:c.2044C>G	NP_000254.2:p.Leu682Val
ENST00000225927.6:c.2044C>G	ENSP00000225927.1:p.Leu682Val
ENST00000591587.1:c.1382C>G	ENSP00000467836.1:n.1382C>G
XM_006721920.2:c.1213C>G	XP_006721983.1:p.Leu405Val
XM_011524840.1:c.1045C>G	XP_011523142.1:p.Leu349Val
XM_017024687.1:c.1213C>G	XP_016880176.1:p.Leu405Val
XM_024450771.1:c.2101C>G	XP_024306539.1:p.Leu701Val
XM_024450772.1:c.1045C>G	XP_024306540.1:p.Leu349Val