Canonical Allele Identifier: CA399604822
Gene: NAGLU HGNC NCBI

Linked Data

dbSNP Id: rs1215582852

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42543778T>A , CM000679.2:g.42543778T>A GRCh38
NC_000017.10:g.40695796T>A , CM000679.1:g.40695796T>A GRCh37
NC_000017.9:g.37949322T>A NCBI36
NG_011552.1:g.12846T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000225927.7:c.1772T>A MANE Select ENSP00000225927.1:p.Leu591Gln
ENST00000225927.6:c.1772T>A ENSP00000225927.1:p.Leu591Gln
ENST00000591587.1:c.1110T>A ENSP00000467836.1:n.1110T>A
NM_000263.3:c.1772T>A NP_000254.2:p.Leu591Gln
XM_006721920.2:c.941T>A XP_006721983.1:p.Leu314Gln
XM_011524840.1:c.773T>A XP_011523142.1:p.Leu258Gln
XM_017024687.1:c.941T>A XP_016880176.1:p.Leu314Gln
XM_024450771.1:c.1829T>A XP_024306539.1:p.Leu610Gln
XM_024450772.1:c.773T>A XP_024306540.1:p.Leu258Gln
NM_000263.4:c.1772T>A MANE Select NP_000254.2:p.Leu591Gln